REST API for Oracle Healthcare Translational Research

Retrieve Diseases for a Gene Identifier

get

/HSDataService-web/api/3.2.0/genes/{id}/diseases

This endpoint supports the retrieval of Diseases for a Gene Row ID passed. It returns Disease information like Disease Name, Mutation Type, Curation Source, Confidence and other Disease associated information.

Request

Supported Media Types

application/json
application/xml

Path Parameters

id: Type: integer (int64)

Required: true

gene 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

Disease(s) not found

Examples

The following example submits a GET request.

API URL

http://localhost:7001/HSDataService-web/api/3.2.0/genes/50259/diseases

Example of Response Body

The following example shows the contents of the response body in JSON format:

{
  "resourceType": "DiseaseGenes",
  "items": [
    {
      "diseaseName": "Squamous cell carcinoma of head & neck",
      "mutationType": "M",
      "variantType": "DM?",
      "confidence": "Low",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Breast cancer%2C association with",
      "mutationType": "M",
      "variantType": "DP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer%2C association with",
      "mutationType": "M,E",
      "variantType": "DP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Glioblastoma%2C risk%2C association with",
      "mutationType": "R",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer%2C susceptibility to",
      "mutationType": "M",
      "variantType": "DM",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Altered transmembrane signaling",
      "mutationType": "M",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer",
      "mutationType": "M",
      "variantType": "DM,DM?",
      "confidence": "High,Low",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Bladder cancer%2C association with",
      "mutationType": "R",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    },
    {
      "diseaseName": "Reduced transcription",
      "mutationType": "E",
      "variantType": "FP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/HSDataService-web/api/3.2.0/genes/50259"
      }
    }
  ],
  "count": 9,
  "hasMore": false,
  "links": [
    {
      "rel": "self",
      "href": "http://localhost:7001/HSDataService-web/api/3.2.0/genes/50259/diseases"
    }
  ]
}