About GeneLeaf

GeneLeaf is a web-based pedigree editor designed for genetic counselors, clinical geneticists, and researchers. It brings pedigree drawing and family history analysis into the modern workflow: online, intuitive, and built on an open standard.

Why GeneLeaf exists

Pedigree drawing is fundamental to genetic counseling and clinical genetics. Yet the software tools available are either desktop-only (requiring installation and maintenance), built for research workflows that don't match clinical practice, or closed in a way that makes data exchange difficult. GeneLeaf was built to fix that: a tool that sits in your browser, respects your workflow, and uses an open, readable file format so you keep your work.

What GeneLeaf does

Draw and edit pedigrees online. Use the standard symbolic notation (squares, circles, half-filled symbols for carriers) in a fast, responsive web editor. No installation, no download. Add individuals, edit relationships, capture health history, and refine the diagram all in one place.

Build pedigrees from family narratives. Paste in a family history write-up ("Her maternal uncle was diagnosed with colon cancer at 52; her father is 68 and unaffected…") and an AI model extracts the relationships and health conditions to draft a pedigree. You then review, correct, and refine it. The narrative text is processed by Cloudflare's infrastructure and is not retained.

Capture the details you need. Record sex, birth and death dates, relationships (biological, step, adoptive, foster), health conditions with onset ages and sources (reported vs. documented), and optional genetic test results. Add notes, links, and custom fields. Everything is optional—start simple and add detail as you learn more.

Export in multiple formats. Save your work as PNG, SVG, or PDF for reports and presentations. Export as Pedigree JSON, an open, structured format that you own and that any tool can read. Or download as a file to keep on your device.

Keep your pedigrees private. GeneLeaf does not store your pedigrees. They live in your browser while you work, and when you save, you download them as a file to your device. You control where they go and who sees them.

The Pedigree JSON standard

Behind GeneLeaf is Pedigree JSON, an open standard for representing family history in plain JSON. We published it because pedigree data needs to move between tools, and existing formats like PLINK .PED were designed for other purposes.

Pedigree JSON is an "unformat": it invents almost nothing. It writes down obvious ideas (name your fields, say what you know, say how sure you are) in a way that is readable by people, databases, and AI systems. It carries:

Named fields. No memorized column positions. Everyone can read the file.
Coded conditions. Optional ICD-10, SNOMED CT, HPO, OMIM, or MONDO coding for cross-family and cohort analysis.
Honest uncertainty. Distinguish what was stated from what was inferred. Track inference levels from known (level 0) to possible (level 3).
Presentation separate from facts. Strip positioning and colors without losing a single fact.
Multi-family collections. One family or a whole cohort in the same format.
De-identification declarations. List which fields contain no protected health information, with a validator to check it.

The specification and JSON Schema are free for anyone to implement, with no permission, fee, or registration required. You do not need GeneLeaf to use Pedigree JSON. Read the full specification.

For researchers and developers

If you work with pedigree data at scale—cohort studies, variant discovery, risk model validation— Pedigree JSON is built for you. It stores directly as PostgreSQL jsonb, supports containment queries and GIN indexes, and has a canonical serialization (RFC 8785) for consistent hashing. The format carries everything a pedigree risk model (Gail, Claus, BOADICEA, BRCAPRO, etc.) needs.

For AI systems, Pedigree JSON's structure and explicit naming make it easier to parse and generate correctly than positional formats. The JSON Schema and semantic validation rules catch errors that would slip past a model trained on less structured data.

Status

GeneLeaf is in active development and is free to use. It is a demonstration and research tool, not yet offered as a HIPAA-compliant service. Please do not enter real patient data; use fictional or fully de-identified examples. We welcome feedback from the genetic counseling, clinical genetics, and research communities on what features and capabilities would make this tool useful in your workflow.

Try it: app.geneleaf.com