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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

if (FALSE) { # \dontrun{
result <- clinvarQuery(ensemblId = "ENSG00000130164",
 efoId = "EFO_0004911", size = 10)
result <- clinvarQuery(ensemblId = "ENSG00000130164",
 efoId = "EFO_0004911", size = 10, cursor = NULL)
} # }