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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: 17-65541541-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65541541&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 65541541,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004655.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "NM_004655.4",
"protein_id": "NP_004646.3",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": "ENST00000307078.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "ENST00000307078.10",
"protein_id": "ENSP00000302625.5",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": "NM_004655.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "ENST00000375702.5",
"protein_id": "ENSP00000364854.5",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266076",
"gene_hgnc_id": null,
"hgvs_c": "n.*1149T>C",
"hgvs_p": null,
"transcript": "ENST00000577662.1",
"protein_id": "ENSP00000462418.1",
"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": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266076",
"gene_hgnc_id": null,
"hgvs_c": "n.*1149T>C",
"hgvs_p": null,
"transcript": "ENST00000577662.1",
"protein_id": "ENSP00000462418.1",
"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": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "NM_001363813.1",
"protein_id": "NP_001350742.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "ENST00000618960.4",
"protein_id": "ENSP00000478916.1",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_011525319.3",
"protein_id": "XP_011523621.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_011525320.2",
"protein_id": "XP_011523622.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_011525321.3",
"protein_id": "XP_011523623.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_017025192.2",
"protein_id": "XP_016880681.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_047436870.1",
"protein_id": "XP_047292826.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 843,
"cds_start": 973,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_017025193.2",
"protein_id": "XP_016880682.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_047436871.1",
"protein_id": "XP_047292827.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_047436872.1",
"protein_id": "XP_047292828.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_047436873.1",
"protein_id": "XP_047292829.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His",
"transcript": "XM_047436874.1",
"protein_id": "XP_047292830.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 778,
"cds_start": 973,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"dbsnp": "rs758075343",
"frequency_reference_population": 0.0000034205764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342058,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7605558633804321,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4342,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.937,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004655.4",
"gene_symbol": "AXIN2",
"hgnc_id": 904,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Tyr325His"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577662.1",
"gene_symbol": "ENSG00000266076",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1149T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Oligodontia-cancer predisposition syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}