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Retrieve Diseases for a Gene Identifier

get

/ohfapi/cg/v3.3/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: integer(int64)
  Minimum Value: 0

  gene row ID

Query Parameters

• limit(optional): integer(int32)
  Number of rows to return
• offset(optional): integer(int32)
  Row number to start from

Security

• basicAuth: basic
  Type: basic

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Response

Supported Media Types

• application/json
• application/xml

200 Response

successful operation

Body ()

Root Schema : PageableCollection

Type: object

Model for paginated collections of data.

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• count(optional): integer(int64)
  Number of objects in the 'items' collection.
• hasMore(optional): boolean
  A boolean indicating if more pages are available.
• items(optional): array items
  A collection of paged items.
• links(optional): array links
  A collection of links containing hrefs to the current, next, and previous pages as applicable.
• resourceType(optional): string
  Identify the resource type

{
    "type":"object",
    "properties":{
        "resourceType":{
            "type":"string",
            "description":"Identify the resource type"
        },
        "items":{
            "type":"array",
            "xml":{
                "wrapped":true
            },
            "description":"A collection of paged items.",
            "items":{
                "$ref":"#/definitions/Serializable"
            }
        },
        "count":{
            "type":"integer",
            "format":"int64",
            "description":"Number of objects in the 'items' collection."
        },
        "hasMore":{
            "type":"boolean",
            "description":"A boolean indicating if more pages are available."
        },
        "links":{
            "type":"array",
            "example":"{rel: 'next',href: '/patientapi/patients?limit=100&offset=300'}",
            "xml":{
                "wrapped":true
            },
            "description":"A collection of links containing hrefs to the current, next, and previous pages as applicable.",
            "items":{
                "type":"string"
            }
        }
    },
    "description":"Model for paginated collections of data."
}

Nested Schema : items

Type: array

A collection of paged items.

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• Array of: object Serializable

{
    "type":"array",
    "xml":{
        "wrapped":true
    },
    "description":"A collection of paged items.",
    "items":{
        "$ref":"#/definitions/Serializable"
    }
}

Nested Schema : links

Type: array

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

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• Array of: string

{
    "type":"array",
    "example":"{rel: 'next',href: '/patientapi/patients?limit=100&offset=300'}",
    "xml":{
        "wrapped":true
    },
    "description":"A collection of links containing hrefs to the current, next, and previous pages as applicable.",
    "items":{
        "type":"string"
    }
}

Example:

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

Nested Schema : Serializable

Type: object

400 Response

Invalid parameters supplied

404 Response

Disease(s) not found

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Examples

The following example submits a GET request.

API URL

http://localhost:7010/ohfapi/cg/v3.3/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": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Breast cancer%2C association with",
      "mutationType": "M",
      "variantType": "DP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer%2C association with",
      "mutationType": "M,E",
      "variantType": "DP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Glioblastoma%2C risk%2C association with",
      "mutationType": "R",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer%2C susceptibility to",
      "mutationType": "M",
      "variantType": "DM",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Altered transmembrane signaling",
      "mutationType": "M",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Lung cancer",
      "mutationType": "M",
      "variantType": "DM,DM?",
      "confidence": "High,Low",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Bladder cancer%2C association with",
      "mutationType": "R",
      "variantType": "DFP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    },
    {
      "diseaseName": "Reduced transcription",
      "mutationType": "E",
      "variantType": "FP",
      "confidence": "High",
      "curationSource": "BIOBASE",
      "ensemblVersion": "GRCH37.75",
      "geneRef": {
        "reference": "/ohfapi/cg/v3.3/genes/50259"
      }
    }
  ],
  "count": 9,
  "hasMore": false,
  "links": [
    {
      "rel": "self",
      "href": "http://localhost:7010/ohfapi/cg/v3.3/genes/50259/diseases"
    }
  ]
}

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