← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-94409337-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94409337&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94409337,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000297268.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "NM_000089.4",
"protein_id": "NP_000080.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1366,
"cds_start": 808,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "ENST00000297268.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "ENST00000297268.11",
"protein_id": "ENSP00000297268.6",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 1366,
"cds_start": 808,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "NM_000089.4",
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"dbsnp": "rs368468",
"frequency_reference_population": 0.0027377112,
"hom_count_reference_population": 7,
"allele_count_reference_population": 4419,
"gnomad_exomes_af": 0.0028478,
"gnomad_genomes_af": 0.00168098,
"gnomad_exomes_ac": 4163,
"gnomad_genomes_ac": 256,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025941580533981323,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.0743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.228,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 20,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000297268.11",
"gene_symbol": "COL1A2",
"hgnc_id": 2198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile"
}
],
"clinvar_disease": " 1, 2, arthrochalasia type, cardiac valvular type, classic type, dominant form, perinatal lethal,Cardiovascular phenotype,Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2,Connective tissue disorder,Ehlers-Danlos syndrome,Osteogenesis imperfecta,Osteogenesis imperfecta type I,Osteogenesis imperfecta with normal sclerae,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:8 B:3 O:1",
"phenotype_combined": "not provided|Connective tissue disorder|not specified|Ehlers-Danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Osteogenesis imperfecta with normal sclerae, dominant form;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, cardiac valvular type;Osteogenesis imperfecta, perinatal lethal|Osteogenesis imperfecta|Ehlers-Danlos syndrome, classic type, 1;Osteogenesis imperfecta type I|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}