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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
NameRequiredDescriptionDefault
reference_genomeYes
chromYes
startYes
stopYes
datasetNognomad_r4

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)

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