clinvar

A skill for finding exact matching ClinVar records, where ClinVar is a public database of clinical interpretations for genetic variants.

In plain words
What is it for?
Use it to build variant inventories and review groups for clinical labels, variants of uncertain significance, conflicting classifications, carrier context, risk factors, and drug-response records.
Why use it?
It provides source-backed candidate evidence for pathogenic, uncertain, conflicting, carrier-related, risk, and drug-response findings without treating a candidate list as a final medical interpretation.

Skill for Claude CodeCodex

Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

agentmods
npx agentmods add skills/exon-research/genomi/clinvar
Any agent
npx skills add exon-research/genomi --skill clinvar
Clone the repo
git clone --depth 1 https://github.com/exon-research/genomi

Made for: Claude Code, Codex.

Per session 33 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 892 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. Scan, not verified.
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5 $0.00033 $0.00892
Opus 5 $0.00016 $0.00446
Sonnet 5 $0.00007 $0.00178
Haiku 4.5 $0.00003 $0.00089

Measured yesterday against content hash 9cc6239a7bda, method: parsed. Prices are Anthropic first-party input rates as of 2026-08-30, from the pricing page.

Security

Grade A, and why

clinvar scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured yesterday.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

skills/clinvar/SKILL.md · 96 lines

How it starts

The opening of the file, as written. The whole thing — 96 lines — stays where its author put it; the contents beside it link to each section on GitHub.

ClinVar Evidence

Use this skill when the user asks about clinical labels, carrier findings, pathogenic/likely pathogenic entries, VUS, conflicting classifications, drug response, risk-factor labels, or ClinVar-derived discovery.

Goal

Build a candidate landscape from exact ClinVar matches. Use candidate_inventory as variant-level provenance evidence and candidate_review_groups as the carrier/condition review inventory.

Convention: See skills/conventions/evidence-quality.md.

Contract

  • ClinVar matches provide exact/static evidence for source-backed interpretation.
  • Exact matching requires the optional build-specific library clinvar-grch38 or clinvar-grch37.
  • Candidate inventories are variant-level evidence, not interpretation.
  • Candidate review groups are review targets. A heterozygous P/LP group can be carrier-relevance evidence; it is not a carrier-status conclusion.
  • clinvar.scan_candidates returns an evidence view, grouped support, warnings, and coverage; use those fields rather than inferring priority from prose.
  • By default, clinvar.scan_candidates includes P/LP, conflicting, VUS, risk/association/protective, drug-response, and benign ClinVar groups.
  • If ClinVar matches are missing, clinvar.scan_candidates materializes them from the Active Genome Index before building the candidate inventory.
  • VUS, conflicts, and low-review assertions are downgraded unless reviewed source evidence supports a stronger claim.
  • Drug-response rows use pharmacogenomic source context before actionability is implied.

Cross-Capability Synthesis

A scope-limited result from this capability is not a final user-facing answer when other Genomi capabilities can contribute orthogonal evidence to the same question. Returning "cannot answer" while applicable capabilities remain unexamined is a host-agent failure mode.

Tools

clinvar.match_variants

Materialize exact ClinVar matches for comparable Active Genome Index variants using the installed build-specific ClinVar library.

Read the full file on GitHub · 96 lines

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. yesterday First seen · 96 lines · 33 tokens per session scan A 9cc6239a7bda

Subscribe to this mod's changes

clinvar is a skill published in the GitHub repository exon-research/genomi (481 stars, last pushed 3d ago), licensed Apache-2.0. It adds 33 tokens to every session and 892 once invoked, about $0.0002 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-08-30.

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