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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: 3-38483273-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38483273&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38483273,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000352511.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Val494Ile",
"transcript": "NM_001106.4",
"protein_id": "NP_001097.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 512,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 11782,
"mane_select": "ENST00000352511.5",
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Val494Ile",
"transcript": "ENST00000352511.5",
"protein_id": "ENSP00000340361.3",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 512,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 11782,
"mane_select": "NM_001106.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "n.5269G>A",
"hgvs_p": null,
"transcript": "ENST00000461232.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "XM_005265583.4",
"protein_id": "XP_005265640.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 533,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 11556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Ile",
"transcript": "XM_017007514.2",
"protein_id": "XP_016863003.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 526,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 11535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "XM_017007515.3",
"protein_id": "XP_016863004.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 518,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Val493Ile",
"transcript": "XM_017007516.2",
"protein_id": "XP_016863005.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 511,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 4916,
"cdna_end": null,
"cdna_length": 14785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "n.1566G>A",
"hgvs_p": null,
"transcript": "ENST00000465020.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"dbsnp": "rs121434438",
"frequency_reference_population": 0.0000086748005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889263,
"gnomad_genomes_af": 0.00000657955,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7279385328292847,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.374,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0866,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.609,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000352511.5",
"gene_symbol": "ACVR2B",
"hgnc_id": 174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Val494Ile"
}
],
"clinvar_disease": " 4, autosomal, visceral,Heterotaxy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Heterotaxy, visceral, 4, autosomal|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}