clinvarQuery: Retrieve ClinVar data for a specified gene and disease.
In otargen: Access Open Target Genetics

clinvarQuery

R Documentation

Retrieve ClinVar data for a specified gene and disease.

Description

This function queries the Open Targets Genetics GraphQL API to retrieve ClinVar data for a specified gene and disease, including evidence from the NCBI datasource.

Usage

clinvarQuery(ensemblId, efoId, size = 10, cursor = NULL)

Arguments

`ensemblId`	Character: ENSEMBL ID of the target gene (e.g., ENSG00000130164).
`efoId`	Character: EFO ID of the disease (e.g., EFO_0004911).
`size`	Integer: Number of records to retrieve (default: 10).
`cursor`	Character: Cursor for pagination (default: NULL).

Value

Returns a data frame containing ClinVar data for the specified gene and disease.

Examples

## Not run: 
result <- clinvarQuery(ensemblId = "ENSG00000130164",
 efoId = "EFO_0004911", size = 10)
result <- clinvarQuery(ensemblId = "ENSG00000130164",
 efoId = "EFO_0004911", size = 10, cursor = NULL)

## End(Not run)

otargen documentation built on Sept. 30, 2024, 9:43 a.m.