io.github.cyanheads/gnomad-genetics-mcp-server

io.github.cyanheads/gnomad-genetics-mcp-server · v0.4.1 · ai-and-media

io.github.cyanheads/gnomad-genetics-mcp-server is healthy: it completed an MCP handshake in 216 ms and exposes 7 tools.

Ancestry allele frequencies, LoF constraint, variant lists, and coverage from gnomAD, with ClinVar.

Endpoint: https://gnomad-genetics.caseyjhand.com/mcp (streamable-http)

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Facts

Users (last 30 days)0
HandshakeHealthy
Auth neededNone
Tool count7
Latency216 ms
Last checked (UTC)2026-10-16T07:20:34.181Z

Health history

Checked (UTC)StatusLatencyError
2026-10-16T07:20:34.181ZHealthy216
2026-10-15T03:25:36.517ZHealthy3271

Tools (7)

gnomad_get_variantFetch the full gnomAD population record for one or more variants — allele count/number/frequency overall and broken down per genetic-ancestry group, homozygote and hemizygote counts, quality flags, transcript consequence, in-silico predictor scores, and joined ClinVar clinical significance. The "how
gnomad_get_gene_constraintFetch gnomAD loss-of-function constraint for a gene — pLI (probability of LoF intolerance; >0.9 intolerant), LOEUF (oe_lof_upper, the headline metric) plus its lower bound, observed/expected ratios for LoF, missense, and synonymous variation, and the three Z-scores. This is the orthogonal axis to al
gnomad_list_gene_variantsList every gnomAD variant in a gene, transcript, or region with allele frequencies and predicted consequences, optionally filtered to one consequence class (lof, missense, synonymous, other) and/or a maximum allele frequency. A result too large to inline is staged on a DataCanvas table named gene_va
gnomad_get_coverageFetch gnomAD sequencing-coverage summary across a gene, transcript, or region — mean and median read depth, plus the mean fraction of samples covered at each depth threshold (1× through 100×), separated by exome and genome track. gnomAD reports coverage in buckets: 1 bp for a region spanning under 8
gnomad_search_clinvarSearch ClinVar (NCBI E-utilities) for a gene and return its classified variants — clinical significance, review status with a 0–4 star rating, associated conditions, molecular consequences, submission counts, and gnomAD-compatible identifiers (canonical SPDI, rsIDs, GRCh38 variant ID for gnomad_get_
gnomad_dataframe_queryRun a read-only SQL SELECT against a canvas table staged by gnomad_list_gene_variants (table gene_variants) or gnomad_search_clinvar (table clinvar_variants) and return one page of the result. Use the canvas_id and table_name those tools returned to rank by allele frequency, group by consequence cla
gnomad_dataframe_describeList the tables staged on a canvas and their columns (name and type) so you can write correct SQL for gnomad_dataframe_query. Use the canvas_id returned by gnomad_list_gene_variants or gnomad_search_clinvar. Returns one entry per table with its row count and column schema.