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GeneBe MCP

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🧬 GeneBe MCP

Give your AI assistant real variant-interpretation data instead of guesses.

Annotate and classify human genetic variants (ACMG, gnomAD, ClinVar, in-silico predictors) from Claude, Cursor, VS Code and any other MCP client, powered by GeneBe.

License: MIT Transport Read only No account Research use only

https://mcp.genebe.net/v1/mcp


Why

Language models are bad at remembering the clinical status of a specific variant. They sound confident and are often wrong. GeneBe MCP lets the assistant look the variant up and answer from data: a transparent, points-based ACMG classification with every criterion explained, together with population frequencies, predictor scores, ClinVar and transcript consequences.

"Is NM_005577.4:c.4195A>C benign?"
"What is chr6-160585140-T-G? Explain why it is classified that way."
"Convert rs41272110 to hg38 and list its consequences on each transcript."

For example, chr6-160585140-T-G (rs41272110, LPA) comes back as Benign, −9 points with criteria BA1 and BP4, plus the data behind them and a link to the GeneBe page.

Related MCP server: EVEE MCP Server

What you get

  • Any notation in: genomic coordinates, HGVS, rsID or SPDI; hg19, hg38 and T2T supported through liftover.

  • Verdict you can audit: ACMG classification with points and the reasoning for each criterion, not a black-box label.

  • Evidence in one call: gnomAD frequencies, in-silico predictors, ClinVar, per-transcript consequences (HGVS c./p., impact), gene details with MANE Select and ClinGen gene–disease validity.

  • Compact answers: large lists are capped, so one call costs roughly 1–3k tokens, and every result also carries structured data that follows the tool's output schema.

  • Links back to GeneBe, so the human can check the source.

Connect in a minute

No sign-up, no API key. The server is remote; you only add its URL.

claude mcp add --transport http genebe https://mcp.genebe.net/v1/mcp

Settings → Connectors → Add custom connector, then enter https://mcp.genebe.net/v1/mcp.

Open chatgpt.com/plugins, click Add (+) → Add custom MCP, and enter https://mcp.genebe.net/v1/mcp.

Add to ~/.cursor/mcp.json:

{ "mcpServers": { "genebe": { "url": "https://mcp.genebe.net/v1/mcp" } } }

Add to .vscode/mcp.json:

{ "servers": { "genebe": { "type": "http", "url": "https://mcp.genebe.net/v1/mcp" } } }

Any client that supports remote MCP over Streamable HTTP works. Try it from a terminal:

curl -s -X POST https://mcp.genebe.net/v1/mcp \
  -H 'Content-Type: application/json' -H 'Accept: application/json, text/event-stream' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"annotate_variant","arguments":{"variant":"chr6-160585140-T-G"}}}'

More examples: USAGE.md.

Tools

Tool

What it does

annotate_variant

Start here. Any notation → ACMG verdict, points and criteria, frequencies, predictor scores, ClinVar, consequences, GeneBe links

explain_acmg_decision_path

Why each classification criterion applied, in plain text

convert_variant

HGVS / rsID / SPDI → hg38 coordinates

get_variant_effects

Per-transcript consequences (HGVS c./p., impact)

get_gene

Gene identifiers, location, MANE Select, ClinGen gene–disease validity, transcripts

liftover_coordinate

Positions, intervals or variants between hg19 / hg38 / t2t

The default genome build is hg38.

Trust and privacy

  • Read-only. No tool changes anything, anywhere.

  • No account, no key needed to use the hosted server.

  • Single variants only. No patient data, no VCF files, no samples are sent or stored.

  • Nothing is stored and variant input is not logged by the MCP server.

  • Transparent classification. Results come from GeneBe's points-based ACMG implementation; the reasoning is returned with the verdict, so you and the assistant can check it.

  • Open source under the MIT license; you can read exactly what the server does, or run your own copy.

  • Research use only. This is not a medical device and not a diagnosis. Classifications must be reviewed by a qualified specialist before any clinical use.

Roadmap

Today GeneBe MCP answers questions about single variants. We plan to grow it into a workspace your assistant can use on your own data. None of the items below is available yet, and the order may change.

  • Sign-in, so the assistant can act on your GeneBe account

  • Your own samples: view and edit sample details and annotations

  • Search your cohort: find a variant across your own set of samples

  • Upload samples from the assistant

  • Supervise computations: start analyses, follow their progress and read the results

Ideas or requests? Open an issue or write to us via genebe.net.

Data sources

Results combine data from GeneBe, gnomAD, ClinVar, UniProt, ClinGen and dbNSFP predictors. Please check each source's license terms before redistributing the data.

Contributing and self-hosting

Want to run your own instance or change the code? See DEVELOPMENT.md. Issues and pull requests are welcome.


Made by the GeneBe team · MIT · Research use only

Available Tools

6 tools
annotate_variant
Read-onlyIdempotent
Inspect

Annotate and classify one human genetic variant using GeneBe.

Start here for any question about a variant (what is it, is it pathogenic/benign, how common is it). Returns the ACMG verdict with points and criteria, population frequency (gnomAD), predictor scores (REVEL, AlphaMissense, SpliceAI, ...), ClinVar status, transcript consequences, and links to the GeneBe page to cite. Research use only; not a diagnosis.

ParametersJSON Schema
NameRequiredDescriptionDefault
genomeNoGenome build of coordinate input. Ignored for HGVS/rsID.hg38
variantYesThe variant. Accepts 'chr-pos-ref-alt' (6-160585140-T-G), HGVS with transcript (NM_005577.4:c.4195A>C), rsID (rs41272110), SPDI, or 'GENE p.Thr1399Pro'.
transcriptNoForce this transcript for the classification, e.g. NM_000546.6
gene_symbolNoForce this gene for the classification, e.g. TP53

Output Schema

ParametersJSON Schema
NameRequiredDescription
geneYes
dbsnpYes
linksYes
scoresYes
clinvarYes
summaryNoHuman-readable variant summary from GeneBe, when the backend provides one
variantYes
verdictYes
warningNo
frequencyYes
truncatedNo
disclaimerNo
consequencesYes
conservationYes
total_consequencesYes
convert_variant
Read-onlyIdempotent
Inspect

Convert a variant written in any notation into normalized hg38 genomic coordinates.

Use when you only need the chr/pos/ref/alt of a variant (for example to translate HGVS or an rsID), without annotation. Does not classify the variant; use annotate_variant for that.

ParametersJSON Schema
NameRequiredDescriptionDefault
variantYesHGVS (NM_007294.4:c.3756_3759del), rsID (rs429358), SPDI (NC_000007.14:11324573:C:T), 'chr-pos-ref-alt', or 'GENE p.Thr1700Ile'.
input_genomeNoGenome build of positional input (hg19 input is lifted to hg38).hg38

Output Schema

ParametersJSON Schema
NameRequiredDescription
errorNo
inputYes
variantsYesResolved hg38 coordinates (usually exactly one)
explain_acmg_decision_path
Read-onlyIdempotent
Inspect

Explain step by step why each classification criterion did or did not apply to a variant.

Use after annotate_variant when the user asks "why was this classified that way?". Returns an ASCII rendering of the decision tree with the evaluated conditions. By default it explains the germline ACMG verdict that annotate_variant returns; the somatic trees 'oncogenicity' (2022) and 'acgs-uk-onco' (2025) can be requested explicitly. Research use only.

ParametersJSON Schema
NameRequiredDescriptionDefault
treeNoDecision tree: 'germline' (default), 'oncogenicity' or 'acgs-uk-onco'.germline
genomeNoGenome build of coordinate input.hg38
variantYesThe variant, in any notation accepted by annotate_variant.
versionNoTree version: germline 2019 (default), oncogenicity 2022, acgs-uk-onco 2025.2019

Output Schema

ParametersJSON Schema
NameRequiredDescription
textYesASCII rendering of how each criterion was evaluated
treeYes
variantYes
versionYes
truncatedNo
disclaimerNo
get_gene
Read-onlyIdempotent
Inspect

Look up a human gene: identifiers, location, MANE Select transcript, ClinGen gene-disease validity.

Use for questions about a gene rather than a specific variant. Transcripts are listed with MANE Select first and capped; check total_transcripts.

ParametersJSON Schema
NameRequiredDescriptionDefault
geneYesGene symbol (BRCA1), alias, HGNC id (HGNC:1100), 'entrez:672' or Ensembl id (ENSG...).
include_transcriptsNoAlso list the gene's transcripts.

Output Schema

ParametersJSON Schema
NameRequiredDescription
chrYes
endYes
linkYes
nameYes
startYes
symbolYes
hgnc_idYes
messageNoSet when an alias matched several genes
ncbi_idYes
omim_idYes
truncatedNo
ensembl_idYes
uniprot_idYes
transcriptsYes
total_transcriptsYes
mane_select_refseqYes
mane_select_ensemblYes
alternative_hgnc_idsNo
gene_disease_validityYes
total_gene_disease_entriesYes
get_variant_effects
Read-onlyIdempotent
Inspect

List a variant's predicted molecular consequences on every overlapping transcript.

Returns per-transcript HGVS (c. and p.), consequence terms (e.g. missense_variant) and impact, most severe and MANE Select transcripts first. Lightweight: no frequencies or classification.

ParametersJSON Schema
NameRequiredDescriptionDefault
genomeNoGenome build of coordinate input.hg38
variantYesThe variant, in any notation accepted by annotate_variant.

Output Schema

ParametersJSON Schema
NameRequiredDescription
effectsYes
variantYes
truncatedNo
total_effectsYes
liftover_coordinate
Read-onlyIdempotent
Inspect

Convert a genomic position, interval or variant between genome builds (hg19, hg38, t2t).

Check status: RESOLVED means one result, AMBIGUOUS means several candidates, anything else means it could not be mapped (see errors). For variants, ref/alt are rebuilt against the target reference and warnings such as REF_MISMATCH may apply.

ParametersJSON Schema
NameRequiredDescriptionDefault
queryYesA position ('chr8:141310715'), an interval ('chr8:141310715-141310716') or a variant ('chr2-23423-A-C', HGVS, rsID).
to_genomeYesGenome build to convert to.
from_genomeYesGenome build of the input.

Output Schema

ParametersJSON Schema
NameRequiredDescription
inputYes
errorsYes
statusYesRESOLVED, AMBIGUOUS, UNRESOLVED, INVALID, NOT_RECOGNIZED or UNSUPPORTED
warningsYes
to_genomeYes
candidatesYes
from_genomeYes

Tool Schema Changelog

Recent tool additions, removals, and schema changes observed during successful MCP inspections.

  1. 6 tool updatesv0.1.0
    • First observedannotate_variant
    • First observedconvert_variant
    • First observedexplain_acmg_decision_path
    • First observedget_gene
    • First observedget_variant_effects
    • First observedliftover_coordinate

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