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Server Configuration

Describes the environment variables required to run the server.

NameRequiredDescriptionDefault

No arguments

Capabilities

Features and capabilities supported by this server

CapabilityDetails
tools
{
  "listChanged": true
}
prompts
{
  "listChanged": false
}
resources
{
  "subscribe": false,
  "listChanged": false
}
experimental
{}

Tools

Functions exposed to the LLM to take actions

NameDescription
get_gene_info

[gnomAD API] Retrieve gene information (v4 only) Args: gene_id (str, optional): Ensembl gene ID (e.g. ENSG00000139618) gene_symbol (str, optional): Gene symbol (e.g. PCSK9) Returns: dict: gene info Note: Not supported in v2/v3. Use search_for_genes instead.

search_for_genes

[gnomAD API] Search for genes (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r3/gnomad_r2_1) reference_genome (str, optional): Reference genome (GRCh37 or GRCh38) query (str): Search string Returns: dict: search results

get_region_info

[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.

get_variant_info

[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

get_clinvar_variant_info

[gnomAD API] Retrieve ClinVar variant info (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Variant ID Returns: dict: ClinVar info

get_mitochondrial_variant_info

[gnomAD API] Retrieve mitochondrial variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Mitochondrial variant ID (e.g. M-8602-T-C). Build must be GRCh38. Returns: dict: mito variant info Note: Not supported in v2/v3.

get_structural_variant_info

[gnomAD API] Retrieve structural variant info (v2/v4) Args: dataset (str): SV dataset ID (gnomad_sv_r4/gnomad_sv_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) variantId (str): Structural variant ID Returns: dict: SV info

get_copy_number_variant_info

[gnomAD API] Retrieve copy number variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh38) variantId (str): CNV ID (e.g. 18714__DUP) Returns: dict: CNV info Note: Not supported in v2/v3.

search_for_variants

[gnomAD API] Search for variants (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) query (str): Search string (variant_id) Returns: dict: search results (variant_id)

get_str_info

[gnomAD API] Retrieve STR info (v4 only) Args: reference_genome (str): Reference genome (GRCh38) id (str): STR ID (e.g. ATXN1) Returns: dict: STR info Note: Not supported in v2/v3.

get_variant_liftover

[gnomAD API] Retrieve liftover info (v2 only) Args: reference_genome (str): Reference genome (GRCh37 or GRCh38) source_variant_id (str, optional): Source variant ID (e.g. 12-112241766-G-A on GRCh37) liftover_variant_id (str, optional): Lifted over variant ID (e.g. 12-111803962-G-A on GRCh38) Returns: dict: liftover info Note: Not supported in v3/v4.

get_metadata

[gnomAD API] Retrieve metadata (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) Returns: dict: metadata

Prompts

Interactive templates invoked by user choice

NameDescription

No prompts

Resources

Contextual data attached and managed by the client

NameDescription

No resources

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