bio-clinical-databases-clinvar-lookup

bio-clinical-databases-clinvar-lookup is a skill for Claude Code, Codex from PKU-YuanGroup/OpenAI4S. It costs 79 tokens per session (5,815 once invoked), scanned A, a copy of bio-clinical-databases-clinvar-lookup, MIT.

A lookup tool for ClinVar, a public database of genetic variants and their reported medical significance. It gathers overall classifications, individual submissions, expert-panel reviews, and differences between inherited and tumour-related interpretations.

In plain words
What is it for?
Use it to look up variants, compare ClinVar and ClinGen interpretations, inspect conflicting submissions, or process many variants from VCF files or XML data.
Why use it?
It helps when different sources disagree about whether a genetic change matters medically. It also reduces manual work when comparing variant evidence against clinical classification guidance.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one.

Good fit Use it to look up variants, compare ClinVar and ClinGen interpretations, inspect conflicting submissions, or process many variants from VCF files or XML data.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup
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.

Any agent
npx skills add PKU-YuanGroup/OpenAI4S --skill bio-clinical-databases-clinvar-lookup
Clone the repo
git clone --depth 1 https://github.com/PKU-YuanGroup/OpenAI4S

Made for: Claude Code, Codex.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for bio-clinical-databases-clinvar-lookup

README.md
[![agentmods](https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup/github.svg)](https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup)
Your own site
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for bio-clinical-databases-clinvar-lookup

Your own site · 80×15
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-clinical-databases-clinvar-lookup.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 79 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 5,815 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 1 finding. A grade says what 26 rules found in the file — not that it is safe.
Origin 100% copy Near-identical to another mod 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 5.1 $0.00079 $0.05815
Opus 5 $0.00039 $0.02908
Sonnet 5 $0.00016 $0.01163
Haiku 4.5 $0.00008 $0.00581

Measured 9d ago against content hash 9318cf2b0a3c, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

bio-clinical-databases-clinvar-lookup scanned grade A with 1 finding 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 9d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (scripts/clinvar_query.py), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

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.

Makes network callslowCapability

Not a fault in itself. Listed so you know the mod talks to something, and to what.

- Python (REST): `requests.get()` against the E-utilities `clinvar` database
Origin

This is a copy

100% identical to bio-clinical-databases-clinvar-lookup — 12 lines differ, which has more behind it and is treated as the original. This page carries a canonical link to it rather than competing with it.

skills/bioskills/bio-clinical-databases-clinvar-lookup/SKILL.md · 318 lines

How it starts

The opening of the file, as written. The whole thing — 318 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: requests 2.31+, cyvcf2 0.30+, pandas 2.2+, bcftools 1.19+, Entrez Direct 21.0+, lxml 5.0+ (for v2 XML schema).

Before using code patterns, verify installed versions match. If versions differ:

  • Python: pip show <package> then help(module.function) to check signatures
  • CLI: <tool> --version then <tool> --help to confirm flags

If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying. ClinVar XML schema v2 (rolled out in 2024) replaces <ClinVarSet> with <VariationArchive> as the top-level anchor; XSLT or parsers targeting the legacy element silently emit zero records.

ClinVar Lookup and Clinical-Significance Triangulation

'Look up the clinical significance of this variant' -> Retrieve ClinVar VCV-level aggregate, SCV-level submissions, ClinGen Variant Curation Expert Panel (VCEP) overrides, and conflict-resolution status.

  • Python (REST): requests.get() against the E-utilities clinvar database
  • Python (local VCF): cyvcf2.VCF('clinvar.vcf.gz') for batch queries against the weekly snapshot
  • CLI: bcftools annotate -a clinvar.vcf.gz -c INFO/CLNSIG,INFO/CLNREVSTAT,INFO/CLNDN
  • Cross-database: ClinGen Allele Registry CA ID via https://reg.clinicalgenome.org/

The Identifier Hierarchy (VCV / SCV / RCV): Get This Wrong and Everything Downstream Breaks

Level Format What it aggregates When to use Fails when
SCV SCVxxxxxxxxx.N One submitter, one variant, one condition (atomic submission unit) Auditing who said what; conflict triangulation Aggregated reporting (use VCV); cross-condition analysis
RCV RCVxxxxxxxxx.N All SCVs for a single (variant, condition) pair Condition-stratified analysis; legacy aggregation Variant-level reporting across all conditions (use VCV)
VCV VCVxxxxxxxxx.N All RCVs for one variant across all conditions Canonical anchor since 2017; default API entrypoint Condition-specific clinical action (use RCV); CLNSIG collapses multi-condition

Read the full file on GitHub · 318 lines

Files

What ships with it

2 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

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. 9d ago First seen · 318 lines · 79 tokens per session scan A 9318cf2b0a3c

Subscribe to this mod's changes

bio-clinical-databases-clinvar-lookup is a skill published in the GitHub repository PKU-YuanGroup/OpenAI4S (407 stars, last pushed yesterday), licensed MIT. It adds 79 tokens to every session and 5,815 once invoked, about $0.0004 per session on Opus 5. A static security scan graded it A with 1 finding (makes network calls). It is 100% identical to bio-clinical-databases-clinvar-lookup, differing in 12 lines, and is treated as a copy.

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