eQTL Catalogue Summary Statistics API Documentation

Overview

HTTP Verbs

This API supports the following HTTP verbs.

Verb

Usage

GET

Used to retrieve a resource

HTTP status codes

This API tries to adhere as closely as possible to standard HTTP and REST conventions in its use of HTTP status codes.

Status code

Usage

200 OK

The request completed successfully

400 Bad Request

The request was malformed. The response body will include an error providing further information

404 Not Found

The requested resource did not exist

Errors

Whenever an error response (status code >= 400) is returned, the body will contain a JSON object that describes the problem. The error object has the following structure:

Path

Type

Description

error

String

The HTTP error that occurred, e.g. Bad Request

message

String

A description of the cause of the error

status

Number

The HTTP status code, e.g. 400

Hypermedia

This API uses hypermedia and resources include links to other resources in their responses. Responses are in Hypertext Application Language (HAL) format. Links can be found beneath the _links key. Users of the API should not created URIs themselves, instead they should use the above-described links to navigate from resource to resource.

API quick reference

With the exception of genomic region requests, all requests for associations can all be made using the /associations endpoint, adding and combining parameters as needed for filtering.

Resource

Operation

Description

Associations

GET /eqtl/api/associations

Lists all of the available associations.

Chromosome Resource

GET /eqtl/api/chromosomes/(string:chromosome)

List a specific chromosome resource

Chromosomes

GET /eqtl/api/chromosomes

List all chromosome resources

Gene Resource

GET /eqtl/api/genes/(string:gene_id)

Lists a specific gene resource.

Genes

GET /eqtl/api/genes

List all existing gene resources

Molecular Phenotype Resource

GET /eqtl/api/molecular_phenotypes/(string:molecular_trait_id)

Lists a specific molecular phenotype resource.

Molecular phenotypes

GET /eqtl/api/molecular_phenotypes

List all existing molecular phenotypes resources

QTL groups

GET /eqtl/api/qtl_groups

List all existing qtl groups (datasets)

Search Chromosome Associations

GET /eqtl/api/chromosomes/(string:chromosome)/associations

Returns associations for a specific chromosome. Will return 404 Not Found if the chromosome value does not exist.

Search Gene for Associations

GET /eqtl/api/genes/(string:gene_id)/associations

Lists associations for a specific gene id.

Search Molecular phenotype for Associations

GET /eqtl/api/molecular_phenotypes/(string:molecular_trait_id)/associations

Lists associations for a specific molecular trait id.

Search Study for Associations

GET /eqtl/api/tissues/(string:tissue)/studies/(string:study)/associations

Lists associations for a specific study.

GET /eqtl/api/studies/(study)/associations

Search Tissue/Cell type for Associations

GET /eqtl/api/tissues/(string:tissue)/associations

Lists associations for a specific tissue ontology.

Search Variant on Chromosome

GET /eqtl/api/chromosomes/(string:chromosome)/associations/(string:variant_id)

Lists all of the available associations of a specific variant.

Studies

GET /eqtl/api/studies

List all existing study resources

Studies for tissues

GET /eqtl/api/tissues/(string:tissue)/studies

List all existing study resources for a given tissue ontology

Study

GET /eqtl/api/tissues/(string:tissue)/studies/(string:study)

Lists a specific study resource

GET /eqtl/api/studies/(string:study)

Tissue

GET /eqtl/api/tissues/(string:tissue)

Lists a specific tissue/cell type ontology resource

Tissues

GET /eqtl/api/tissues

List all existing tissue/cell type resources

Variant Associations

GET /eqtl/api/associations/(string:rsid)

Lists all of the available associations of a specific variant.

GET /eqtl/api/associations/(string:variant_id)

API General Guidelines

Association Queries

For all endpoints that return associations you can assume the below.

Default data values displayed are from the ‘ge’ (gene counts) quantification method. You can query specifically for any other quantification method choosing from the table below:

Quantification method

Reference

Gene counts

‘ge’

Exon counts

‘exon’

Microarray

‘microarray’

Transcript usage

‘tx’

Txrevise

‘txrevise’

Use the reference to specify the quantification method. For instance, if you want to view exon count data use the query parameter quant_method=exon. By default quant_method is set to ‘ge’. It is not possible to view all the quantification methods in one API call.

Depending on the endpoint, you can filter by the following parameters:

Parameter

Label

Example

Molecular trait

‘molecular_trait_id’

molecular_trait_id=ENSG00000187583

Gene

‘gene_id’

gene_id=ENSG00000073067

Variant

‘variant_id’

variant_id=rs577290214

Study

‘study’

study=Alasoo_2018

Tissue ontology

‘tissue’

tissue=CL_0000235

QTL group/context

‘qtl_group’

qtl_group=macrophage_IFNg

The above parameters can be applied to any endpoint that does not already search/filter by that parameter, e.g. the molecular trait parameter is ignored when applied to the molecular phenotypes endpoint. The parameters can be combined using the & operator to filter the data as much as needed but any single parameter can only be called once i.e. it is not possible to filter for multiple genes, for that you must make separate queries. In the case a combination of tissue and qtl_group, any QTL group will supersede the tissue filter, effectively nullifying the tissue filter. This is because a QTL context refers to a tissue and condition e.g. if the tissue/cell type is ‘macrophage’ and the condition/treatment is ‘Salmonella’, the corresponding QTL group is ‘macrophage_Salmonella’.

You can also filter all of the association endpoints by p-value. This is done by setting either the lower p-value threshold that you want to be cutoff, the upper p-value threshold that you want to be cutoff, or both. This is done by passing the query parameters p_lower=<lower p-value> and/or p_upper=<upper p-value> to the API call.

Furthermore, if you would like to query associations by a base-pair location range on a specific chromosome, you can pass in one or both of the following parameters, bp_lower=<lower base-pair limit> and bp_upper=<upper base-pair limit>. Note: base-pair location limit filtering will only work via the /chromosomes/(int: chromosome)/associations endpoint.

Response format

The links parameter, links, switches toggles whether to return URLs for that specific association, tissue, variant and study. The links are by default deactivated to improve performance and cannot be combined with the paginate=False parameter. The paginate parameter, paginate, allows you to flag whether the response should be paginated (using the size and start parameters) or not. By default it is set to ‘True’, but if set to ‘False’ the size and start parameters are ignored and the response will contain every hit. When using the un-paginated format none of the links seen in the paginated format will be present. Note that paginate=False can only be used on sufficiently filtered payloads (to avoid transmitting huge payloads). A sufficiently filtered request adheres to the following: study & qtl_group & (gene_id or molecular_trait_id or variant_id) i.e. requests for genes, molecular traits or variants for a specific study and QTL group can be returned as one single payload rather than paged responses.

Requesting associations for variant

You can query the associations of a specific variant by variant id or rsID. This can be done either via the /associations/(string: variant_id) or /associations/(string: rsid) endpoint, or it can be done as a parameter query like /associations/?variant_id=(string: variant_id/rsid).

Available data fields

Name

Type

Description

variant

String

The variant ID (CHR_BP_REF_ALT) e.g. chr19_226776_C_T

rsid

String

The rsID, if given, for the variant

chromosome

Number

GRCh38 chromosome name of the variant

position

Number

GRCh38 position of the variant

study_id

String

The study identifier e.g. Alasoo_2018

molecular_trait_id

String

ID of the molecular trait e.g. ENSG00000156508

pvalue

Number

P-value of association between the variant and the phenotype

neg_log10_pvalue

Number

Negative log10 p-value

ac

Number

Allele count

alt

String

GRCh38 effect allele (alt allele)

ref

String

GRCh38 other allele (reference allele)

maf

Number

Minor allele frequency within the QTL mapping study

median_tpm

Number

Expression value for the associated gene + qtl_group

type

String

SNP, INDEL or OTHER

an

Number

Total number of alleles

beta

Number

Regression coefficient from the linear model

gene_id

String

Ensembl gene ID

r2

Number

Imputation quality score from the imputation software

qtl_group

String

Controlled vocabulary for the QTL group (tissue & condition)

tissue

String

Ontology term for the tissue/cell type

tissue_label

String

Controlled vocabulary for the tissue/cell type

condition

String

Controlled vocabulary for the condition/treatment

condition_label

String

More verbose condition description

Listing Resources

Requests that return multiple resources will be paginated to 20 items by default. You can change number of items returned using the size parameter. The maximum size value is 1000 and any value given greater than 1000 will be converted to 1000.

Paging resources

Links will be provided in the response to navigate the resources.

Example request:

GET /associations?size=1 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json
{
  "_embedded": {
    "associations": {
      "0": {
        "alt": "G",
        "condition": "naive",
        "rsid": "rs200141179",
        "condition_label": "naive",
        "ac": 240,
        "position": 230130,
        "chromosome": "19",
        "an": 972,
        "qtl_group": "brain",
        "beta": -0.0529243,
        "r2": 0.48226,
        "variant": "chr19_230130_GATC_G",
        "study_id": "BrainSeq",
        "ref": "GATC",
        "tissue_label": "brain",
        "type": "INDEL",
        "maf": 0.246914,
        "median_tpm": 12.272,
        "pvalue": 0.0166984,
        "neg_log10_pvalue": 1.77732514,
        "molecular_trait_id": "ENSG00000011304",
        "gene_id": "ENSG00000011304",
        "tissue": "UBERON_0009834",
      }
    }
  },
  "_links": {
    "self": {
      "href": "https://www.ebi.ac.uk/eqtl/api/associations"
    },
    "first": {
      "href": "https://www.ebi.ac.uk/eqtl/api/associations?size=1&start=0"
    },
    "next": {
      "href": "https://www.ebi.ac.uk/eqtl/api/associations?size=1&start=1"
    }
  }
}

Response structure

Path

Type

Description

_links

Object

Links to other resources

_embedded

Object

The list of resources

Links

Relation

Description

self

This resource list

first

The first page in the resource list

next

The next page in the resource list

When paging through results, the next link should always be used, and incrementing the search start parameter based on the size should be avoided. If you would like to return an un-paginated payload containing all the results, see Response format.

Accessing the API

The api endpoint provides the entry point into the service.

A GET request is used to access the API.

Example request:

GET / HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json
{
  "_links": {
    "associations": {
          "href": "https://www.ebi.ac.uk/eqtl/api/associations"
    },
    "molecular_phenotypes": {
          "href": "https://www.ebi.ac.uk/eqtl/api/molecular_phenotypes"
    },
    "studies": {
          "href": "https://www.ebi.ac.uk/eqtl/api/studies"
    },
    "tissues": {
          "href": "https://www.ebi.ac.uk/eqtl/api/tissues"
    },
    "genes": {
          "href": "https://www.ebi.ac.uk/eqtl/api/genes"
    },
    "chromosomes": {
          "href": "https://www.ebi.ac.uk/eqtl/api/chromosomes"
    }
  }
}

Response structure

Path

Type

Description

_links

Object

Links to other resources

Links

Relation

Description

associations

Link to the association resources in the database

molecular_phenotypes

Link to the molecular phenotypes resources in the database

studies

Link to the study resources in the database

tissues

Link to the tissue resources in the database

genes

Link to the gene resources in the database

chromosomes

Link to the chromosome resources in the database

API detailed reference

GET /eqtl/api/associations

Associations

Lists all of the available associations that are loaded into the database. Can be specify by p-value cutoff threshold.

Example request:

GET /associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "alt": "G",
        "condition": "naive",
        "rsid": "rs200141179",
        "condition_label": "naive",
        "ac": 240,
        "position": 230130,
        "chromosome": "19",
        "an": 972,
        "qtl_group": "brain",
        "beta": -0.0529243,
        "r2": 0.48226,
        "variant": "chr19_230130_GATC_G",
        "study_id": "BrainSeq",
        "ref": "GATC",
        "tissue_label": "brain",
        "type": "INDEL",
        "maf": 0.246914,
        "median_tpm": 12.272,
        "pvalue": 0.0166984,
        "neg_log10_p_value": 1.77732514,
        "molecular_trait_id": "ENSG00000011304",
        "gene_id": "ENSG00000011304",
        "tissue": "UBERON_0009834",
      },
      "1": {
        "alt": "G",
        "condition": "naive",
        "rsid": "rs200141179",
        "condition_label": "naive",
        "ac": 240,
        "position": 230130,
        "chromosome": "19",
        "an": 972,
        "qtl_group": "brain",
        "beta": 0.0340718,
        "r2": 0.48226,
        "variant": "chr19_230130_GATC_G",
        "study_id": "BrainSeq",
        "ref": "GATC",
        "tissue_label": "brain",
        "type": "INDEL",
        "maf": 0.246914,
        "median_tpm": 27.623,
        "pvalue": 0.424836,
        "neg_log10_p_value": 0.371778689,
        "molecular_trait_id": "ENSG00000129951",
        "gene_id": "ENSG00000129951",
        "tissue": "UBERON_0009834",
      }
    }
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/associations?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/associations?start=2&size=2"
    }
  }
}
Query Parameters
  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • variant_id – variant identifier, either rsID (rs577290214) or in the form CHR_BP_REF_ALT (chr7_27916_T_C); will only return associations with this variant

  • qtl_group – QTL group/context so for any study, you can also specify a qtl_group, which will filter to only return data from this context

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • start – offset number. default is 0

  • size – number of items returned. default is 20, max is 1000.

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

Status Codes
GET /eqtl/api/associations/(string: rsid)
GET /eqtl/api/associations/(string: variant_id)

Search Variant Associations

Lists all of the associations of the variant requested. Variant id must be a valid rsid. Will return 404 Not Found if the variant id does not exist. If study_accession query parameter is specified, you will get a single association resource in response. Can be specify by p-value cutoff threshold.

Example request:

GET /associations/rs200141179 HTTP/1.1
Host: www.ebi.ac.uk
GET /associations/chr19_230130_GATC_G HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
   "_embedded": {
     "associations": {
       "0": {
         "alt": "G",
         "condition": "naive",
         "rsid": "rs200141179",
         "condition_label": "naive",
         "ac": 240,
         "position": 230130,
         "chromosome": "19",
         "an": 972,
         "qtl_group": "brain",
         "beta": -0.0529243,
         "r2": 0.48226,
         "variant": "chr19_230130_GATC_G",
         "study_id": "BrainSeq",
         "ref": "GATC",
         "tissue_label": "brain",
         "type": "INDEL",
         "maf": 0.246914,
         "median_tpm": 12.272,
         "pvalue": 0.0166984,
         "neg_log10_p_value": 1.77732514,
         "molecular_trait_id": "ENSG00000011304",
         "gene_id": "ENSG00000011304",
         "tissue": "UBERON_0009834",
       },
       "1": {
         "alt": "G",
         "condition": "naive",
         "rsid": "rs200141179",
         "condition_label": "naive",
         "ac": 240,
         "position": 230130,
         "chromosome": "19",
         "an": 972,
         "qtl_group": "brain",
         "beta": 0.0340718,
         "r2": 0.48226,
         "variant": "chr19_230130_GATC_G",
         "study_id": "BrainSeq",
         "ref": "GATC",
         "tissue_label": "brain",
         "type": "INDEL",
         "maf": 0.246914,
         "median_tpm": 27.623,
         "pvalue": 0.424836,
         "neg_log10_p_value": 0.371778689,
         "molecular_trait_id": "ENSG00000129951",
         "gene_id": "ENSG00000129951",
         "tissue": "UBERON_0009834",
       }
     }
   },
   "_links": {
     "self": {
       "href": "http://www.ebi.ac.uk/eqtl/api/associations"
     },
     "first": {
       "href": "http://www.ebi.ac.uk/eqtl/api/associations?start=0&size=2"
     },
     "next": {
       "href": "http://www.ebi.ac.uk/eqtl/api/associations?start=2&size=2"
     }
   }
 }
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

Status Codes
GET /eqtl/api/chromosomes

Chromosomes

Lists all chromosome resources. Note that chromosomes values ‘X’, ‘Y’ and ‘MT’ are mapped to 23, 24 and 25, respectively.

Example request:

GET /chromosomes HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "chromosomes": [
      {
        "chromosome": "1",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations"
          }
        }
      },
      {
        "chromosome": "10",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/10"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/10/associations"
          }
        }
      },
      {
        "chromosome": "11",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/11"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/11/associations"
          }
        }
      },
      {
        "chromosome": "12",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/12"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/12/associations"
          }
        }
      },
      {
        "chromosome": "13",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/13"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/13/associations"
          }
        }
      },
      {
        "chromosome": "14",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/14"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/14/associations"
          }
        }
      },
      {
        "chromosome": "15",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/15"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/15/associations"
          }
        }
      },
      {
        "chromosome": "16",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/16"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/16/associations"
          }
        }
      },
      {
        "chromosome": "17",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/17"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/17/associations"
          }
        }
      },
      {
        "chromosome": "18",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/18"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/18/associations"
          }
        }
      },
      {
        "chromosome": "19",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/19"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/19/associations"
          }
        }
      },
      {
        "chromosome": "2",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/2"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/2/associations"
          }
        }
      },
      {
        "chromosome": "20",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/20"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/20/associations"
          }
        }
      },
      {
        "chromosome": "21",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/21"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/21/associations"
          }
        }
      },
      {
        "chromosome": "22",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/22"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/22/associations"
          }
        }
      }
    ]
  }
}
Status Codes
GET /eqtl/api/chromosomes/(string: chromosome)

Chromosome Resource

List a specific chromosome resource. Note that chromosomes values ‘X’, ‘Y’ and ‘MT’ are mapped to 23, 24 and 25, respectively.

Example request:

GET /chromosomes/11 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/11"
    },
    "associations": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/11/associations"
    }
  },
  "chromosome": "11"
}
Status Codes
GET /eqtl/api/chromosomes/(string: chromosome)/associations

Search Chromosome Associations

Returns associations for a specific chromosome.

Example request:

GET /chromosomes/1/associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "an": 972,
        "beta": 0.0866221,
        "median_tpm": 0.991,
        "qtl_group": "brain",
        "r2": 0.9107,
        "condition": "naive",
        "variant": "chr1_1053768_G_A",
        "tissue_label": "brain",
        "study_id": "BrainSeq",
        "condition_label": "naive",
        "ref": "G",
        "alt": "A",
        "position": 1053768,
        "pvalue": 0.483624,
        "neg_log10_p_value": 0.315492155,
        "maf": 0.0123457,
        "type": "SNP",
        "ac": 12,
        "rsid": "rs115061121",
        "chromosome": 1,
        "molecular_trait_id": "ENSG00000008128",
        "gene_id": "ENSG00000008128",
        "tissue": "UBERON_0009834",
      },
      "1": {
        "an": 972,
        "beta": 0.0304911,
        "median_tpm": 21.145,
        "qtl_group": "brain",
        "r2": 0.9107,
        "condition": "naive",
        "variant": "chr1_1053768_G_A",
        "tissue_label": "brain",
        "study_id": "BrainSeq",
        "condition_label": "naive",
        "ref": "G",
        "alt": "A",
        "position": 1053768,
        "pvalue": 0.468078,
        "neg_log10_p_value": 0.329681771,
        "maf": 0.0123457,
        "type": "SNP",
        "ac": 12,
        "rsid": "rs115061121",
        "chromosome": 1,
        "molecular_trait_id": "ENSG00000197530",
        "gene_id": "ENSG00000197530",
        "tissue": "UBERON_0009834",
      }
    }
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations?size=2&start=0"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations?size=2&start=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • bp_lower – lower base pair location threshold, expressed as an integer

  • bp_upper – upper base pair location threshold, expressed as an integer

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

Status Codes
GET /eqtl/api/chromosomes/(string: chromosome)/associations/(string: variant_id)

Search Variant on Chromosome

Lists all of the associations of the variant requested. Variant id must be a valid rsid. Will return 404 Not Found if the variant id does not exist. Can specify by p-value cutoff threshold. The response should be identical to the /associations/<string:variant_id> but the query time may be faster.

Example request:

GET /chromosomes/1/associations/rs56197012 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "study_id": "Nedelec_2016",
        "r2": 0.7364,
        "median_tpm": 148.732,
        "type": "INDEL",
        "condition_label": "naive",
        "chromosome": "1",
        "maf": 0.190184,
        "beta": -0.0255253,
        "condition": "naive",
        "alt": "TAA",
        "ac": 264,
        "an": 326,
        "qtl_group": "macrophage_naive",
        "ref": "T",
        "pvalue": 0.24666,
        "neg_log10_p_value": 0.607901273,
        "position": 814583,
        "variant": "rs56197012",
        "tissue_label": "macrophage",
        "rsid": "rs56197012",
        "molecular_trait_id": "ENSG00000078808",
        "gene_id": "ENSG00000078808",
        "tissue": "CL_0000235",
      },
      "1": {
        "study_id": "Nedelec_2016",
        "r2": 0.7364,
        "median_tpm": 39.017,
        "type": "INDEL",
        "condition_label": "naive",
        "chromosome": "1",
        "maf": 0.190184,
        "beta": 0.018958,
        "condition": "naive",
        "alt": "TAA",
        "ac": 264,
        "an": 326,
        "qtl_group": "macrophage_naive",
        "ref": "T",
        "pvalue": 0.711897,
        "neg_log10_p_value": 0.147582837,
        "position": 814583,
        "variant": "rs56197012",
        "tissue_label": "macrophage",
        "rsid": "rs56197012",
        "molecular_trait_id": "ENSG00000008130",
        "gene_id": "ENSG00000008130",
        "tissue": "CL_0000235",
      }
    }
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations/rs56197012"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations/rs56197012?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/chromosomes/1/associations/rs56197012?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • bp_lower – lower base pair location threshold, expressed as an integer

  • bp_upper – upper base pair location threshold, expressed as an integer

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

Status Codes
GET /eqtl/api/genes

Genes

Lists all of the existing gene resources.

Example request:

GET /genes HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "gene": [
      {
        "gene": "ENSG00000223972",
        "_links": {
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000223972/associations"
          },
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000223972"
          }
        }
      },
      {
        "gene": "ENSG00000227232",
        "_links": {
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000227232/associations"
          },
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000227232"
          }
        }
      }
    ]
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/genes/(string: gene_id)

Gene Resource

Lists a specific gene resource

Example request:

GET /genes/ENSG00000223972 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "gene": "ENSG00000223972",
  "_links": {
    "associations": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000223972/associations"
    },
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000223972"
    }
  }
}
Status Codes
GET /eqtl/api/genes/(string: gene_id)/associations

Search Gene for Associations

Lists associations for a specific gene id.

Example request:

GET /genes/ENSG00000070031/associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "an": 972,
        "beta": -0.116221,
        "median_tpm": 0.561,
        "qtl_group": "brain",
        "r2": 0.5648,
        "study_id": "BrainSeq",
        "condition": "naive",
        "tissue_label": "brain",
        "variant": "chr11_192658_T_C",
        "condition_label": "naive",
        "ref": "T",
        "alt": "C",
        "position": 192658,
        "pvalue": 0.644378,
        "neg_log10_p_value": 0.190859295,
        "maf": 0.00925926,
        "type": "SNP",
        "ac": 9,
        "rsid": "rs373952992",
        "chromosome": "11",
        "molecular_trait_id": "ENSG00000070031",
        "gene_id": "ENSG00000070031",
        "tissue": "UBERON_0009834",
      },
      "1": {
        "an": 972,
        "beta": -0.19745,
        "median_tpm": 0.561,
        "qtl_group": "brain",
        "r2": 0.77945,
        "study_id": "BrainSeq",
        "condition": "naive",
        "tissue_label": "brain",
        "variant": "chr11_193051_G_A",
        "condition_label": "naive",
        "ref": "G",
        "alt": "A",
        "position": 193051,
        "pvalue": 0.166599,
        "neg_log10_p_value": 0.77832761,
        "maf": 0.0277778,
        "type": "SNP",
        "ac": 27,
        "rsid": "rs144999256",
        "chromosome": "11",
        "molecular_trait_id": "ENSG00000070031",
        "gene_id": "ENSG00000070031",
        "tissue": "UBERON_0009834",
       }
     }
   },
   "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000070031/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000070031/associations?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/genes/ENSG00000070031/associations?start=1&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • variant_id – variant identifier, either rsID (rs577290214) or in the form CHR_BP_REF_ALT (chr7_27916_T_C); will only return associations with this variant

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

Status Codes
GET /eqtl/api/molecular_phenotypes

Molecular phenotypes

Lists all of the existing molecular phenotype resources.

Example request:

GET /traits HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "molecular_trait_id": [
      {
        "molecular_trait_id": "ENSG00000187583",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000187583"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000187583/associations"
          }
        }
      },
      {
        "molecular_trait_id": "ENSG00000227232",
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000227232"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000227232/associations"
          }
        }
      }
    ]
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/molecular_phenotypes/(string: molecular_trait_id)

Molecular phenotype Resource

Lists a specific molecular phenotype resource

Example request:

GET /molecular_phenotypes/ENSG00000187583 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "molecular_trait_id": "ENSG00000187583",
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000187583"
    },
    "associations": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000187583/associations"
    }
  }
}
Status Codes
GET /eqtl/api/molecular_phenotypes/(string: molecular_trait_id)/associations

Search Molecular phenotype for Associations

Lists associations for a specific molecular trait id.

Example request:

GET /molecular_phenotypes/ENSG00000011304/associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
   "_embedded": {
     "associations": {
       "0": {
         "alt": "G",
         "condition": "naive",
         "rsid": "rs200141179",
         "condition_label": "naive",
         "ac": 240,
         "position": 230130,
         "chromosome": "19",
         "an": 972,
         "qtl_group": "brain",
         "beta": -0.0529243,
         "r2": 0.48226,
         "variant": "chr19_230130_GATC_G",
         "study_id": "BrainSeq",
         "ref": "GATC",
         "tissue_label": "brain",
         "type": "INDEL",
         "maf": 0.246914,
         "median_tpm": 12.272,
         "pvalue": 0.0166984,
         "neg_log10_p_value": 1.77732514,
         "molecular_trait_id": "ENSG00000011304",
         "gene_id": "ENSG00000011304",
         "tissue": "UBERON_0009834",
       },
   "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000011304/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000011304/associations?start=0&size=1"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/molecular_phenotypes/ENSG00000011304/associations?start=1&size=1"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • variant_id – variant identifier, either rsID (rs577290214) or in the form CHR_BP_REF_ALT (chr7_27916_T_C); will only return associations with this variant

Status Codes
GET /eqtl/api/qtl_groups

QTL groups

Lists all of the existing qtl groups.

Example request:

GET /qtl_groups HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "qtl_groups": [
      {
        "qtl_group": "Adipose_Subcutaneous"
      },
      {
        "qtl_group": "Adipose_Visceral_Omentum"
      }
    ]
  },
  "_links": {
    "self": {
      "href": "http://localhost:8000/eqtl/api/qtl_groups"
    },
    "first": {
      "href": "http://localhost:8000/eqtl/api/qtl_groups?start=0&size=2"
    },
    "next": {
      "href": "http://localhost:8000/eqtl/api/qtl_groups?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/studies

Studies

Lists all of the existing study resources.

Example request:

GET /studies HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "studies": [
      [
        {
          "_links": {
            "self": {
              "href": "http://www.ebi.ac.uk/eqtl/api/studies/Alasoo_2018"
            },
            "associations": {
              "href": "http://www.ebi.ac.uk/eqtl/api/studies/Alasoo_2018/associations"
            },
            "tissue": {
              "href": "http://www.ebi.ac.uk/eqtl/api/tissues?study_accession=Alasoo_2018"
            }
          },
          "study_accession": "Alasoo_2018"
        }
      ],
      [
        {
          "_links": {
            "self": {
              "href": "http://www.ebi.ac.uk/eqtl/api/studies/BLUEPRINT"
            },
            "associations": {
              "href": "http://www.ebi.ac.uk/eqtl/api/studies/BLUEPRINT/associations"
            },
            "tissue": {
              "href": "http://www.ebi.ac.uk/eqtl/api/tissues?study_accession=BLUEPRINT"
            }
          },
          "study_accession": "BLUEPRINT"
        }
      ]
    ]
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/studies"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/studies?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/studies?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/tissues

Tissues

Lists all of the existing tissue resources.

Example request:

GET /tissues HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
   _embedded: {
      tissues: [{
            tissue_label: "Esophagus - Mucosa",
            tissue: "UBER_0006920"
         },
         {
            tissue_label: "Artery - Coronary",
            tissue: "UBER_0001621"
         }
      ]
   },
   _links: {
      self: {
         href: "http://www.ebi.ac.uk/eqtl/api/tissues"
      },
      first: {
         href: "http://www.ebi.ac.uk/eqtl/api/tissues?start=0&size=2"
      },
      next: {
         href: "http://www.ebi.ac.uk/eqtl/api/tissues?start=2&size=2"
      }
   }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/tissues/(string: tissue)

Tissue

Example request:

GET /tissues/CL_0000057 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_links": {
    "associations": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000057/associations"
    },
    "studies": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000057/studies"
    },
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000057"
    }
  },
  "tissue": "CL_0000057"
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/tissues/(string: tissue)/associations

Search Tissue for Associations

Lists associations for a specific tissue ontology

Example request:

GET /tissues/CL_0000235/associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "condition_label": "IFNg_18h+Salmonella_5h",
        "alt": "A",
        "condition": "IFNg+Salmonella",
        "rsid": "rs201551942",
        "r2": 0.44038,
        "ac": 64,
        "position": 229783,
        "chromosome": "19",
        "an": 168,
        "qtl_group": "macrophage_IFNg+Salmonella",
        "beta": 0.0245131,
        "median_tpm": null,
        "variant": "chr19_229783_G_A",
        "study_id": "Alasoo_2018",
        "ref": "G",
        "tissue_label": "macrophage",
        "type": "SNP",
        "maf": 0.380952,
        "pvalue": 0.5004,
        "neg_log10_p_value": 0.300682699,
        "molecular_trait_id": "ENSG00000011304",
        "gene_id": "ENSG00000011304",
        "tissue": "CL_0000235",
      },
      "1": {
        "condition_label": "IFNg_18h+Salmonella_5h",
        "alt": "A",
        "condition": "IFNg+Salmonella",
        "rsid": "rs201551942",
        "r2": 0.44038,
        "ac": 64,
        "position": 229783,
        "chromosome": "19",
        "an": 168,
        "qtl_group": "macrophage_IFNg+Salmonella",
        "beta": -0.0685795,
        "median_tpm": null,
        "variant": "chr19_229783_G_A",
        "study_id": "Alasoo_2018",
        "ref": "G",
        "tissue_label": "macrophage",
        "type": "SNP",
        "maf": 0.380952,
        "pvalue": 0.0528997,
        "neg_log10_p_value": 1.276546791,
        "molecular_trait_id": "ENSG00000099817",
        "gene_id": "ENSG00000099817",
        "tissue": "CL_0000235",
      }
    }
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/associations?size=2&start=0"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/associations?size=2&start=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • study – study identifer; will return only associations related to that study (Alasoo_2018)

  • qtl_group – QTL group/context

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • variant_id – variant identifier, either rsID (rs577290214) or in the form CHR_BP_REF_ALT (chr7_27916_T_C); will only return associations with this variant

Status Codes
GET /eqtl/api/tissues/(string: tissue)/studies

Studies for tissues

Lists all of the existing study resources.

Example request:

GET /tissues/CL_0000235/studies HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "studies": [
      {
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Alasoo_2018"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Alasoo_2018/associations"
          },
          "tissue": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues?study_accession=Alasoo_2018"
          }
        },
        "study_accession": "Alasoo_2018"
      },
      {
        "_links": {
          "self": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Nedelec_2016"
          },
          "associations": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Nedelec_2016/associations"
          },
          "tissue": {
            "href": "http://www.ebi.ac.uk/eqtl/api/tissues?study_accession=Nedelec_2016"
          }
        },
        "study_accession": "Nedelec_2016"
      }
    ]
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies?size=20&start=0"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

Status Codes
GET /eqtl/api/tissues/(string: tissue)/studies/(string: study)
GET /eqtl/api/studies/(string: study)

Study

Example request:

GET /studies/Alasoo_2018 HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "study_accession": "Alasoo_2018",
  "_links": {
    "associations": {
      "href": "http://www.ebi.ac.uk/eqtl/api/studies/Alasoo_2018/associations"
    },
    "tissue": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues?study_accession=Alasoo_2018"
    },
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/studies/Alasoo_2018"
    }
  }
}
Status Codes
GET /eqtl/api/tissues/(string: tissue)/studies/(string: study)/associations
GET /eqtl/api/studies/(study)/associations

Search Study for Associations

Lists associations for a specific study.

Example request:

GET /studies/Alasoo_2018/associations HTTP/1.1
Host: www.ebi.ac.uk

Example response:

HTTP/1.1 200 OK
Content-Type: application/json

{
  "_embedded": {
    "associations": {
      "0": {
        "study_id": "Alasoo_2018",
        "r2": 0.44038,
        "median_tpm": null,
        "type": "SNP",
        "condition_label": "IFNg_18h+Salmonella_5h",
        "chromosome": "19",
        "maf": 0.380952,
        "beta": 0.0245131,
        "condition": "IFNg+Salmonella",
        "alt": "A",
        "ac": 64,
        "an": 168,
        "qtl_group": "macrophage_IFNg+Salmonella",
        "ref": "G",
        "pvalue": 0.5004,
        "neg_log10_p_value": 0.300682699,
        "position": 229783,
        "variant": "chr19_229783_G_A",
        "tissue_label": "macrophage",
        "rsid": "rs201551942",
        "molecular_trait_id": "ENSG00000011304",
        "gene_id": "ENSG00000011304",
        "tissue": "CL_0000235",
      },
      "1": {
        "study_id": "Alasoo_2018",
        "r2": 0.44038,
        "median_tpm": null,
        "type": "SNP",
        "condition_label": "IFNg_18h+Salmonella_5h",
        "chromosome": "19",
        "maf": 0.380952,
        "beta": -0.0685795,
        "condition": "IFNg+Salmonella",
        "alt": "A",
        "ac": 64,
        "an": 168,
        "qtl_group": "macrophage_IFNg+Salmonella",
        "ref": "G",
        "pvalue": 0.0528997,
        "neg_log10_p_value": 1.276546791,
        "position": 229783,
        "variant": "chr19_229783_G_A",
        "tissue_label": "macrophage",
        "rsid": "rs201551942",
        "molecular_trait_id": "ENSG00000099817",
        "gene_id": "ENSG00000099817",
        "tissue": "CL_0000235",
      }
    }
  },
  "_links": {
    "self": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Alasoo_2018/associations"
    },
    "first": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Alasoo_2018/associations?start=0&size=2"
    },
    "next": {
      "href": "http://www.ebi.ac.uk/eqtl/api/tissues/CL_0000235/studies/Alasoo_2018/associations?start=2&size=2"
    }
  }
}
Query Parameters
  • start – offset number. default is 0

  • size – number of items returned. default is 20

  • quant_methodge (default), exon, microarray, tx or txrev will show you the association data for different quantification methods. See the API documentation for more details.

  • p_lower – lower p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • p_upper – upper p-value threshold, can be expressed as a float or using mantissa and exponent annotation (0.001 or 1e-3 or 1E-3)

  • gene_id – gene identifier; will return only associations with this gene id (ENSG00000073067)

  • molecular_trait_id – molecular phenotype identifier; will return only associations from this molecular phenotype (ENSG00000187583)

  • qtl_group – QTL group/context

  • paginate – Flag whether the response should be paginated or not. Boolean True (default) or False

  • links – Flag whether the response should contain association level links or not. Boolean True or False (default)

  • tissue – tissue ontology identifier; will return only associations from this tissue/cell type (CL_0000235)

  • variant_id – variant identifier, either rsID (rs577290214) or in the form CHR_BP_REF_ALT (chr7_27916_T_C); will only return associations with this variant

Status Codes