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Install in OpenClaw
/install variant-annotation
Description
Query and annotate gene variants from ClinVar and dbSNP databases. Trigger when: - User provides a variant identifier (rsID, HGVS notation, genomic coordinat...
Usage Guidance
This skill appears to genuinely query ClinVar and dbSNP and compute ACMG-style scores, but the documentation advertises additional data sources (gnomAD, ExAC, 1000 Genomes) and functional predictors (SIFT, PolyPhen, CADD) that the code does not clearly fetch or compute. Before installing or relying on it:
- Do not treat outputs as clinical-grade without independent validation; this is not a substitute for professional genetic interpretation.
- Review scripts/main.py fully (the repo content appears truncated in places) to confirm which external APIs are actually called and how allele frequencies/predictions are derived.
- If you need gnomAD or CADD results, verify that those APIs or local database files are integrated — otherwise the tool may produce incomplete annotations.
- Keep sensitive genomic data private: batch/VCF uploads contain health information. Confirm the tool only sends queries to NCBI endpoints and that you are comfortable with that network traffic.
- If you plan to provide an NCBI API key, supply it via a secure mechanism (not hard-coded).
- Consider running the script on test cases from references/example-variants.md to confirm expected outputs and to detect any missing evidence sources or mismatches between documentation and behavior.
Capability Analysis
Type: OpenClaw Skill
Name: variant-annotation
Version: 1.0.0
The skill's core functionality is benign, designed for legitimate bioinformatics variant annotation. However, the `scripts/main.py` file contains a significant arbitrary file read/write vulnerability. The `main()` function directly uses `args.file` and `args.output` parameters with `open()` without any path sanitization or restriction, potentially allowing an attacker to read or write to arbitrary file paths on the host system if the execution environment is not sufficiently sandboxed. While `SKILL.md` mentions 'Output directory restricted to workspace' and 'Script execution in sandboxed environment' in its security checklist, the code itself does not enforce these restrictions, making it a vulnerability rather than malicious intent.
Capability Assessment
Purpose & Capability
Name/description and the code align on querying ClinVar and dbSNP via NCBI E-utilities and computing ACMG scores. However, SKILL.md promises population allele frequencies from gnomAD/ExAC/1000G and functional predictions (SIFT, PolyPhen, CADD). The provided code shows only NCBI E-utilities calls (ClinVar and dbSNP) and does not include integrations or downloads for gnomAD, ExAC, 1000 Genomes, or functional prediction APIs, so those claimed capabilities appear unimplemented or incomplete.
Instruction Scope
SKILL.md instructs local usage (importing the Python class or running the script) and mentions batch/VCF input. The runtime instructions and code only call NCBI endpoints; they do not instruct reading unrelated system files or external endpoints beyond NCBI. That scope is appropriate, but the doc's broad list of data sources and computed outputs is larger than what the code implements — the agent could therefore report values that are estimated or absent unless additional data-fetching is added.
Install Mechanism
This is instruction-only / script-based with no install spec and a minimal requirements.txt (dataclasses). No external installers, downloads, or unusual repository fetches are present — low install risk.
Credentials
No required environment variables or credentials are declared. The VariantAnnotator constructor accepts an optional NCBI API key (appropriate and optional for higher rate limits). No unrelated secrets or system config paths are requested.
Persistence & Privilege
The skill does not request 'always: true' and does not modify other skills or system-wide agent settings. It runs as a standalone script/class and does not demand persistent elevated privileges.
How to Use
- Make sure OpenClaw is installed (local or Docker)
- Run the install command in chat:
/install variant-annotation - After installation, invoke the skill by name or use
/variant-annotation - Provide required inputs per the skill's parameter spec and get structured output
Version History
v1.0.0
Initial release of the variant-annotation skill for clinical variant interpretation.
- Query and annotate variants using ClinVar, dbSNP, and population frequency data.
- Supports multiple input formats: rsID, HGVS notation, genomic coordinates, VCF.
- Provides clinical significance, ACMG guideline-based classification, allele frequencies, disease associations, and functional predictions.
- Python API and CLI interfaces for individual and batch variant annotation.
- Implements ACMG scoring and variant classification thresholds.
- Integrates major datastores (ClinVar, dbSNP, gnomAD, Ensembl VEP, CADD) for comprehensive annotation.
Metadata
Frequently Asked Questions
What is Variant Annotation?
Query and annotate gene variants from ClinVar and dbSNP databases. Trigger when: - User provides a variant identifier (rsID, HGVS notation, genomic coordinat... It is an AI Agent Skill for Claude Code / OpenClaw, with 431 downloads so far.
How do I install Variant Annotation?
Run "/install variant-annotation" in the OpenClaw or Claude Code chat to install it in one step — no extra setup required.
Is Variant Annotation free?
Yes, Variant Annotation is completely free (open-source). You can download, install and use it at no cost.
Which platforms does Variant Annotation support?
Variant Annotation is cross-platform and runs anywhere OpenClaw / Claude Code is available (cross-platform).
Who created Variant Annotation?
It is built and maintained by AIpoch (@aipoch-ai); the current version is v1.0.0.
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