Retrieve Diseases for a Variant Identifier

get

/ohfapi/cg/v3.3/variants/{id}/diseases

This endpoint supports the retrieval of Disease for a Variant Identifier. It returns Disease information like Disease Name, Mutation Type, Variant Type, Feature, Confidence, Curation Source, Ensembl Version, Assembly/Alignment Name and other Disease associated information.

Request

Supported Media Types
Path Parameters
Query Parameters
Security
Back to Top

Response

Supported Media Types

200 Response

successful operation
Body ()
Root Schema : PageableCollection
Type: object
Model for paginated collections of data.
Show Source
Nested Schema : items
Type: array
A collection of paged items.
Show Source
Nested Schema : Serializable
Type: object

400 Response

Invalid parameters supplied

404 Response

Variant disease(s) not found
Back to Top

Examples

The following example submits a GET request.

API URL

http://localhost:7010/ohfapi/cg/v3.3/variants/536777/diseases

Example of Request Body

The following example shows the response returned in JSON format.

{
  "resourceType" : "DiseasesVariants",
  "items" : [ {
    "diseaseName" : "Zellweger syndrome",
    "mutationType" : "M",
    "variantType" : "DM",
    "feature" : "Zellweger syndrome:233A>G",
    "confidence" : "High",
    "curationSource" : "BIOBASE",
    "ensemblVersion" : "GRCH37.75",
    "assembly" : "GRCh37",
    "variantReferences" : {
      "reference" : "/ohfapi/cg/v3.3/variants/536777"
    }
  } ],
  "count" : 1,
  "hasMore" : false,
  "links" : [ {
    "rel" : "self",
    "href" : "http://localhost:7010/ohfapi/cg/v3.3/variants/536777/diseases"
  } ]
}
Back to Top