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Variant Annotation

作者 AIpoch · GitHub ↗ · v1.0.0
cross-platform ⚠ suspicious
431
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0
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0
当前安装
1
版本数
在 OpenClaw 中安装
/install variant-annotation
功能描述
Query and annotate gene variants from ClinVar and dbSNP databases. Trigger when: - User provides a variant identifier (rsID, HGVS notation, genomic coordinat...
安全使用建议
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.
功能分析
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.
能力评估
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.
如何使用
  1. 确保已安装 OpenClaw(本地或 Docker 部署)
  2. 在对话框中输入安装命令:/install variant-annotation
  3. 安装完成后,直接呼叫该 Skill 的名称或使用 /variant-annotation 触发
  4. 根据 Skill 的参数说明提供必要输入,即可获得结构化输出
版本历史
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.
元数据
Slug variant-annotation
版本 1.0.0
许可证
累计安装 1
当前安装数 0
历史版本数 1
常见问题

Variant Annotation 是什么?

Query and annotate gene variants from ClinVar and dbSNP databases. Trigger when: - User provides a variant identifier (rsID, HGVS notation, genomic coordinat... 它是一个面向 Claude Code / OpenClaw 的 AI Agent Skill 插件,目前累计下载 431 次。

如何安装 Variant Annotation?

在 OpenClaw 或 Claude Code 对话框中运行命令「/install variant-annotation」即可一键安装,无需额外配置。

Variant Annotation 是免费的吗?

是的,Variant Annotation 完全免费(开源免费),可自由下载、安装和使用。

Variant Annotation 支持哪些平台?

Variant Annotation 跨平台运行,可在任意部署了 OpenClaw / Claude Code 的环境中使用(cross-platform)。

谁开发了 Variant Annotation?

由 AIpoch(@aipoch-ai)开发并维护,当前版本 v1.0.0。

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