REST API for Oracle Healthcare Translational Research

Retrieve Diseases for a Variant Identifier

get

/HSDataService-web/api/3.2.0/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

application/json
application/xml

Path Parameters

id: Type: integer (int64)

Required: true

Variant Row ID

Query Parameters

limit: Type: integer (int32)

Number of rows to return
offset: Type: integer (int32)

Row number to start from

Response

Supported Media Types

application/json
application/xml

200 Response

successful operation

Body

Model for paginated collections of data.

Root Schema : PageableCollectionDisease

Type: object

Model for paginated collections of data.

Properties

count: Type: integer (int64)

Number of objects in the 'items' collection.
hasMore: Type: boolean

Default Value: false

A boolean indicating if more pages are available.
items: Type: array items

A collection of paged items.
links: Type: array links

A collection of links containing hrefs to the current, next, and previous pages as applicable.
resourceType: Type: string

Identify the resource type

Nested Schema : items

Type: array

A collection of paged items.

Items

Type: object Disease

Nested Schema : links

Type: array

A collection of links containing hrefs to the current, next, and previous pages as applicable.

Example

{rel: 'next',href: '/patientapi/patients?limit=100&offset=300'}

Items

Type: string

Nested Schema : Disease

Type: object

Properties

assembly: Type: string

Assembly NameAssembly/Alignment Name. For ex.,GRCh38
confidence: Type: string

Confidence
curationSource: Type: string

Curation Source
diseaseName: Type: string

Disease Name
ensemblVersion: Type: string

Ensembl Version. For ex.,GRCH37.75
feature: Type: string

Feature
geneRef: Type: object LinkedReference
mutationType: Type: string

Mutation Type
variantReferences: Type: object LinkedReference
variantType: Type: string

Variant Type

Nested Schema : LinkedReference

Type: object

Properties

display: Type: string
reference: Type: string

400 Response

Invalid parameters supplied

404 Response

Variant disease(s) not found

Examples

The following example submits a GET request.

API URL

http://localhost:7001/HSDataService-web/api/3.2.0/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" : "/HSDataService-web/api/3.2.0/variants/536777"
    }
  } ],
  "count" : 1,
  "hasMore" : false,
  "links" : [ {
    "rel" : "self",
    "href" : "http://localhost:7001/HSDataService-web/api/3.2.0/variants/536777/diseases"
  } ]
}