GeneMachine documentation
GeneMachine documentation
Use GeneMachine's medicine library and appointment worksheet, run the local DNA file check, understand its privacy model and scope, and run or host your own copy.
Open the app
Open GeneMachine in a current browser. Nothing is installed and no account is needed.
Learn about a medicine
- Search for a medicine, brand name, gene or category, for example
clopidogrelorCYP2D6. - Open a topic to read the general evidence, the individual unknowns and the testing questions. Each topic links its CPIC guideline and summarizes FDA labeling without dose numbers.
- Choose Add this question to put a suggested question on your list.
The library covers nine CPIC Level A gene–drug topics: statins, clopidogrel, thiopurines, fluorouracil and capecitabine, codeine and tramadol, warfarin, tacrolimus, inhaled anesthetics and succinylcholine, and NSAID pain relievers. A medicine that is not in the library is not evidence that genetics is irrelevant to it.
Prepare for an appointment
- Choose Write a question to add a question about any medicine. Questions about medicines outside the library are marked Medicine not assessed.
- Edit the wording, add personal notes and move your main concern to the top. You can keep up to five questions.
- Copy the list as text, or download the printable worksheet and open it in your browser to print or save as PDF.
Questions and notes stay in the tab's memory. Clearing the list, leaving or reloading the page removes them.
Check a DNA file
To see the workflow without anyone's data, choose Try the synthetic example. You should see OBSERVATION SUPPORTED, a synthetic label and one rs4149056 observation with its limits.
For your own file:
- Read the privacy explanation and consent to local-only processing.
- Choose an original
.txt,.tsvor.csvexport from 23andMe or AncestryDNA. Extract ZIP files on your device first. - Review the quality checks and the result. Choose Clear this DNA now when you are done.
The check reports row counts per chromosome, the declared genome build and strand, no-calls, duplicate markers and a SHA-256 digest of the original bytes. It reports one SLCO1B1 rs4149056 observation only when build 37 or 38, forward strand, exact coordinate, valid alleles and a unique called row all agree. Otherwise it says why it cannot report it.
Scope and limits
The checker does not call star alleles, diplotypes, phenotypes, CYP2D6, HLA, copy number or structural variants. A missing marker is unknown. A high call rate does not mean a pharmacogene is covered.
GeneMachine is educational. It has no clinical validation or regulatory clearance, does not diagnose a condition, does not predict how you will respond to a medicine and does not recommend a dose or treatment change. Medication decisions need a qualified professional and appropriate confirmation.
Privacy
Raw DNA is parsed in a Web Worker that ends after analysis or cancellation. Only aggregate quality checks and the narrow finding reach the page. The app uses no analytics, accounts, browser storage or external API. Reset cannot delete your original file, your clipboard or reports you downloaded, so store and share those deliberately.
Run your own copy
Requires Node.js 22 or later and Git.
git clone https://github.com/baney75/GeneMachine.git
cd GeneMachine
npm startOpen http://127.0.0.1:4173/. The local server binds to loopback only and rejects uploads. Use GENEMACHINE_PORT=4174 npm start for another port.
To build the static site, run npm run build and serve dist/ over HTTPS or localhost so workers and hashing work.
Verify
npm install
npx playwright install chromium webkit
npm test
npm run test:browser
npm run test:experience
npm run test:design
npm run test:appointmentThe browser suites cover import, abstention, consent, cancellation, exports, search, worksheet editing, clipboard recovery and responsive layout in Chromium and WebKit. Synthetic fixtures test software behavior; they do not establish clinical accuracy.
Agent Skill
The repository also contains a SKILL.md describing how an authorized AI agent should route genomic research through quality checks, current evidence and inspected reports. Install it with:
git clone https://github.com/baney75/GeneMachine.git ~/.codex/skills/genemachineNever send a genome anywhere without its owner's explicit consent for that destination and purpose.
Something unclear or out of date? Open an issue on GitHub.