get_variants_in_gene
Retrieve all genetic variants within a specified gene using Ensembl ID or gene symbol. Access variant data from gnomAD datasets and analyze population-level genetic information.
Instructions
Get all variants in a specific gene
Input Schema
Name | Required | Description | Default |
---|---|---|---|
dataset | No | Dataset ID | gnomad_r4 |
gene_id | No | Ensembl gene ID | |
gene_symbol | No | Gene symbol | |
reference_genome | No | Reference genome | GRCh38 |
Input Schema (JSON Schema)
{
"properties": {
"dataset": {
"default": "gnomad_r4",
"description": "Dataset ID",
"type": "string"
},
"gene_id": {
"description": "Ensembl gene ID",
"type": "string"
},
"gene_symbol": {
"description": "Gene symbol",
"type": "string"
},
"reference_genome": {
"default": "GRCh38",
"description": "Reference genome",
"type": "string"
}
},
"type": "object"
}