AI-Powered Evidence Intelligence for Genomic Variant Analysis

Multi-agent AI platform that classifies genomic variants using ACMG/AMP guidelines. Automatically mines PubMed literature, queries ClinVar, gnomAD, and OMIM, and generates clinical-grade evidence reports for every variant.

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How InsightVariant Works

From VCF upload to clinical-grade variant classification in minutes

Upload VCF

Upload VCF files with patient phenotype terms. Supports GRCh37/GRCh38 reference genomes with automated variant normalization and HGVS notation.

AI Analysis

Six specialized AI agents parse, annotate, and search literature. Queries ClinVar, gnomAD, OMIM, and Ensembl for comprehensive variant annotation.

Evidence Synthesis

AI synthesizes evidence from all sources, applies ACMG/AMP criteria systematically, and produces confidence-scored pathogenicity classifications.

Clinical Reports

Generate clinical-grade reports with cancer risk estimates, management recommendations, pharmacogenomic insights, and cascade testing guidance.

Evidence from Trusted Sources

Aggregate and synthesize genomic evidence from world-class databases and literature

Genomic Databases

Query clinical and population databases for variant significance, allele frequencies, and gene-disease associations

ClinVar gnomAD OMIM Ensembl VEP UniProt

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Scientific Literature

AI-powered PubMed mining extracts study metadata, effect sizes, p-values, and relevant excerpts for every variant

PubMed Case Studies GWAS Functional Cohort

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Standards & Formats

Full support for industry-standard genomic formats and clinical classification frameworks

VCF HGVS ACMG/AMP GRCh37 GRCh38

Explore Features

AI-Powered Evidence Intelligence Platform

InsightVariant transforms raw genomic data into actionable clinical intelligence with multi-agent AI.

Multi-Agent AI Pipeline

6 specialized agents orchestrated by LangGraph
VCF parsing with HGVS normalization
Parallel annotation & literature search
Automated evidence synthesis & reporting

Evidence Intelligence Cards

Rich PubMed citations with PMID & DOI
ACMG criteria badges (PVS1, PS, PM, PP)
Study metadata: cohort, effect size, p-value
Evidence strength & relevance scoring

ACMG/AMP Classification

5-tier pathogenicity classification
Systematic criteria application & scoring
Confidence-scored AI insights
Clinical management recommendations

Powerful Genomic Analysis Features

Comprehensive capabilities for variant interpretation and clinical genomics

VCF Upload & Parsing

Upload VCF files with HPO phenotype terms and automated variant normalization

ACMG Classification

Systematic 5-tier pathogenicity classification with evidence criteria

Literature Mining

AI-powered PubMed search with study metadata extraction and relevance scoring

Gene-Disease Map

30+ curated gene-disease associations with inheritance patterns and external links

Evidence Cards

Rich evidence cards with PubMed citations, ACMG badges, and relevance scores

Pipeline Monitor

Real-time visualization of 6-agent pipeline with step-by-step execution tracking

Unified Search

Cross-entity search across variants, genes, diseases, and publications

API & Integration

RESTful APIs for uploads, variants, evidence, agents, and search endpoints

Built for Every Genomics Team

How different teams leverage InsightVariant for evidence-based variant interpretation

Clinical Geneticists

Accelerate variant interpretation with AI-curated evidence and ACMG classification

ACMG/AMP classification with confidence scores
Clinical management recommendations
Cancer risk estimates & pharmacogenomic insights
Cascade testing guidance for families

Research Scientists

Explore gene-disease associations and mine literature for variant evidence

PubMed literature mining with study metadata
Gene-disease association explorer (30+ genes)
Population frequency analysis from gnomAD
Functional impact predictions (SIFT, PolyPhen)

Genetic Counselors

Generate patient-ready reports and understand variant significance

Plain-language clinical summaries
Inheritance pattern information (AD, AR, XL)
Evidence-based risk communication
External resource links (OMIM, GeneCards)

Bioinformatics Teams

Integrate variant analysis into existing genomic workflows via APIs

RESTful API for automated VCF processing
Pipeline monitor with agent execution tracking
Batch variant analysis at scale
Token usage & duration auditing per step

Clinical-Grade Security & Compliance

Genomic data requires the highest level of protection. InsightVariant is built for clinical environments.

HIPAA & GDPR Compliant

Built for clinical environments with full HIPAA, GDPR, and SOC 2 compliance. Complete audit trails for every variant analysis.

Genomic Data Protection

Patient genomic data never leaves your environment. On-premise and private cloud deployment with end-to-end encryption.

Full Audit Trail

Every agent step, LLM call, and classification decision is logged with timestamps, token counts, and model versions for reproducibility.

Ready to Transform Your Variant Analysis Workflow?

Join leading clinical labs and research institutions using InsightVariant for AI-powered genomic evidence intelligence

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HIPAA compliant • On-premise deployment • ACMG/AMP framework • Enterprise support