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Gene variant evidence checker
Name a gene variant. Get public evidence, expert gene-disease ratings and papers, each with its source.
Gene variant evidence checker is a free AI skill for the job "Research a topic properly". Give the instructions to an AI assistant that supports the required files and tools, then review its output.
Free · No account · MIT licence · Made by K-Dense · Level: advanced · Thinking: high
Made by K-Dense. See the original on GitHub; we copied it as it is, with its licence.
What it does
Name a gene variant and get back what public sources say about it, with a link for every claim. It looks up variant evidence, automated classification support under the ACMG/AMP rules, expert gene-disease ratings from ClinGen, and linked papers. It connects to a free public service, so you need no account or key. It keeps to public identifiers only, so no patient data goes out. If a source has nothing, or a check fails, the answer says so plainly instead of guessing. The coverage is limited, so a missing entry does not mean no link exists. The output is support for a professional reviewer, not a diagnosis.
You give it
- A variant name or identifier
- The gene (optional)
- The genome build (optional)
- Network access to the public service
You get
- Public evidence for the variant
- ACMG/AMP decision support notes
- Gene-disease validity ratings
- Linked papers with sources
Use it when
- You found a variant in a report and want the public evidence behind it.
- You need a gene-disease rating from an expert panel.
- You want papers about one variant in a single list.
- You are preparing notes for a clinician to review.
How to use it
- Add it to your AI once: download it and add the folder to Claude, ChatGPT or Codex as a skill.
- Ask for the job in your own words. Your AI opens the skill when it fits.
- It works best when your AI can reach public web data services.