get_region_info
Retrieve genomic region data from gnomAD v4, including variant information and population frequencies for specified chromosome coordinates in GRCh38.
Instructions
[gnomAD API] Retrieve region information (v4 only) Args: reference_genome (str): Reference genome (GRCh38) chrom (str): Chromosome start (int): Start position. Build must be GRCh38. stop (int): End position. Build must be GRCh38. Returns: dict: region info Note: Not supported in v2/v3.
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| reference_genome | Yes | ||
| chrom | Yes | ||
| start | Yes | ||
| stop | Yes | ||
| dataset | No | gnomad_r4 |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
No arguments | |||
Implementation Reference
- server.py:64-97 (handler)The get_region_info tool is defined and implemented as an MCP tool in server.py. It takes region parameters, validates them, and calls run_query_with_metadata to fetch data.
@mcp.tool() def get_region_info( reference_genome: str, chrom: str, start: int, stop: int, dataset: str = 'gnomad_r4' ) -> dict: """ [gnomAD API] Retrieve region information (v4 only) Args: reference_genome (str): Reference genome (GRCh38) chrom (str): Chromosome start (int): Start position. Build must be GRCh38. stop (int): End position. Build must be GRCh38. Returns: dict: region info Note: Not supported in v2/v3. """ if dataset != 'gnomad_r4': raise ValueError("Only v4 is supported for region info.") if reference_genome != 'GRCh38': raise ValueError("Only GRCh38 is supported for region info.") variables = { 'dataset': dataset, 'reference_genome': reference_genome, 'chrom': chrom, 'start': start, 'stop': stop, } return run_query_with_metadata('region', variables)