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get_variant_info

Retrieve variant information from gnomAD databases to analyze genetic variations across populations and reference genomes.

Instructions

[gnomAD API] Retrieve variant information (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) variantId (str): Variant ID (e.g. 1-55051215-G-GA) Returns: dict: variant info

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
datasetYes
reference_genomeYes
variantIdYes

Implementation Reference

  • The get_variant_info function serves as the MCP tool handler. It is decorated with @mcp.tool() and uses the helper run_query_with_metadata to perform the data retrieval.
    @mcp.tool()
    def get_variant_info(
        dataset: str,
        reference_genome: str,
        variantId: str
    ) -> dict:
        """
        [gnomAD API] Retrieve variant information (v2/v3/v4)
        Args:
            dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1)
            reference_genome (str): Reference genome (GRCh37 or GRCh38)
            variantId (str): Variant ID (e.g. 1-55051215-G-GA)
        Returns:
            dict: variant info
        """
    
        variables = {
            'dataset': dataset,
            'reference_genome': reference_genome,
            'variantId': variantId,
        }
        return run_query_with_metadata('variant', variables)

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