Sold by: 3billion inc.
Deployed on AWS
GEBRA is a cloud-based NGS variant interpretation platform for clinical WES/WGS analysis, rare disease case review, variant prioritization, ACMG-based interpretation, CNV/SV review, and reanalysis workflows.
Overview
GEBRA is a clinical NGS variant interpretation platform designed to help genetic laboratories and clinical teams analyze, prioritize, interpret, and review genomic variants from rare disease WES and WGS cases.
Built for end-to-end interpretation workflows, GEBRA supports both FASTQ- and VCF-based analysis, enabling laboratories to move from raw sequencing data or existing variant files to structured clinical review. The platform integrates phenotype-driven variant prioritization, ACMG-based interpretation support, CNV/SV review, report preparation, and reanalysis workflows in a single cloud environment.
GEBRA is especially suited for laboratories handling rare disease, inherited disease, pediatric genetics, and unresolved WES/WGS cases. By combining automated prioritization with expert review workflows, GEBRA helps clinical teams reduce manual review burden, standardize interpretation processes, and revisit previously unresolved cases with updated evidence and analysis logic.
For laboratories building or scaling in-house genomic testing capabilities, GEBRA provides a practical interpretation workflow that supports clinical NGS data review without requiring teams to maintain complex bioinformatics infrastructure internally.
Key Features
- Clinical NGS variant interpretation platform for WES and WGS data
- Supports FASTQ- and VCF-based workflows
- Phenotype-driven variant prioritization using HPO-based clinical information
- ACMG-based interpretation support for clinical variant review
- SNV, indel, CNV, and SV review workflows
- Rare disease-focused case analysis and candidate variant prioritization
- Reanalysis workflow for previously unresolved cases
- Cloud-based access for distributed clinical and laboratory teams
- Designed to support scalable interpretation workflows for genetic testing laboratories
Typical Use Cases
- Rare disease WES/WGS interpretation
- Unresolved case reanalysis
- Clinical exome and genome variant review
- In-house NGS interpretation workflow setup
- Variant prioritization for pediatric and inherited disease cases
- Standardized review workflow for clinical genetics teams
Highlights
- End-to-end NGS variant interpretation workflow for rare disease analysis, from sequencing data and variant calls to clinical review and reporting
- Broad variant support across SNV/indel, CNV, structural variants, mobile element insertions, and repeat expansions in one cloud-based platform
- AI-powered prioritization and ACMG-based interpretation support to help clinical teams review candidate variants faster and more consistently
Details
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Deployed on AWS
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Pricing
Pricing is based on actual usage, with charges varying according to how much you consume. Subscriptions have no end date and may be canceled any time.
Additional AWS infrastructure costs may apply. Use the AWS Pricing Calculator to estimate your infrastructure costs.
Dimension | Description | Cost/unit |
|---|---|---|
Exome_Proband_FASTQ | WES FASTQ Proband | $85.00 |
Exome_Proband_VCF | WES VCF Proband | $70.00 |
Exome_Duo_FASTQ | WES FASTQ Duo | $170.00 |
Exome_Duo_VCF | WES VCF Duo | $105.00 |
Exome_Trio_FASTQ | WES FASTQ Trio | $255.00 |
Exome_Trio_VCF | WES VCF Trio | $140.00 |
Genome_Proband_FASTQ | WGS FASTQ Proband | $205.00 |
Genome_Proband_VCF | WGS VCF Proband | $130.00 |
Genome_Duo_FASTQ | WGS FASTQ Duo | $410.00 |
Genome_Duo_VCF | WGS VCF Duo | $195.00 |
Dimensions summary
You pay per sample analyzed, so cost scales with how many cases you run. The 12 options split along three choices. First, pick the sequencing type: Exome (WES) or Genome (WGS). Second, pick the case size: Proband for one individual, Duo for two family members, or Trio for three. Third, pick the starting data format: FASTQ, the raw sequencing files, or VCF, the pre-called variant file. Each combination is billed separately per unit, letting you match the price to each case you submit.
Top-of-mind questions for buyers
FASTQ options start from raw sequencing files, which the platform aligns and calls before interpretation. VCF options start from an already-called variant file, so the platform skips the calling step and moves straight to annotation, classification, and symptom-based prioritization. You pick the format that matches the data you already hold.
You are billed per case submitted, not per person. A Proband case covers one individual. A Duo case covers two family members, and a Trio covers three. All members in a Duo or Trio are analyzed together under that single case charge, so a Trio is one unit, not three.
Exome (WES) options cover the exome region, roughly 20,000 gene-coding areas, catching most rare disease variants. Genome (WGS) options cover the entire genome, adding structural variants and mitochondrial DNA detection. Each choice is billed as its own unit, so cost reflects the breadth of coverage you select per case.
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Support Email : gebra@3billion.io Product Page : https://3billion.io/gebra User Manual :
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