# HepVar

- **Event:** [Built with Opus 4.7: a Claude Code hackathon](https://cerebralvalley.ai/e/built-with-4-7-hackathon)
- **When:** Apr 21 at 12:00 PM – Apr 27 at 2:00 AM (EDT)
- **Where:** Online
- **Team:** [Ariel Maia](https://cerebralvalley.ai/u/bionisch)
- **GitHub:** https://github.com/arielmmaia/hepvar
- **Demo video:** https://drive.google.com/drive/folders/1mD021E_KC7UhO-83JQ5Ag8_k8aXlrfhA?usp=sharing
- **Gallery:** https://cerebralvalley.ai/e/built-with-4-7-hackathon/hackathon/gallery
- **Page:** https://cerebralvalley.ai/e/built-with-4-7-hackathon/hackathon/gallery/270

Five years ago my wife was misdiagnosed with an autoimmune liver disease and put on lifelong immunosuppressants that didn't fully work. After four specialists and years of side effects, a fifth one finally suspected a rare genetic liver disease and ordered a genetic test. It found a mutation in a liver gene — but the lab couldn't tell us whether it caused her disease. Verdict: *"we don't know."

That answer came back not because the mutation was harmless, but because she's Brazilian, and the world's genetics databases are built mostly from European DNA. My wife is a geneticist. I'm a molecular biologist. We spent weeks rebuilding the evidence by hand, including a study where researchers had introduced her exact mutation into cultured cells and shown that it disrupts the protein's function. She switched medications and was healthy in a month.

HepVar is that workflow, automated. It pulls a dozen genetic, structural, and literature sources in parallel and hands the package to Claude Opus 4.7 with extended thinking. Opus weighs conflicting evidence, names the specific next experiment that would resolve the uncertainty, and unprompted flags clinical safety issues. Three modes (technical / clinician / patient) re-frame the same report without changing a single number. Open source, MIT.

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