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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: 17-57974567-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57974567&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VEZF1",
"hgnc_id": 12949,
"hgvs_c": "c.1472C>A",
"hgvs_p": "p.Pro491His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_007146.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.424,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43160805106163025,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_007146.3",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1472C>A",
"hgvs_p": "p.Pro491His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000581208.2",
"protein_coding": true,
"protein_id": "NP_009077.2",
"strand": false,
"transcript": "NM_007146.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000581208.2",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1472C>A",
"hgvs_p": "p.Pro491His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007146.3",
"protein_coding": true,
"protein_id": "ENSP00000462337.1",
"strand": false,
"transcript": "ENST00000581208.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1020,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000258963.7",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Pro309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258963.3",
"strand": false,
"transcript": "ENST00000258963.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905172.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Pro538His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575231.1",
"strand": false,
"transcript": "ENST00000905172.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 562,
"aa_ref": "P",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905170.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1595C>A",
"hgvs_p": "p.Pro532His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575229.1",
"strand": false,
"transcript": "ENST00000905170.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 561,
"aa_ref": "P",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905171.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1592C>A",
"hgvs_p": "p.Pro531His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575230.1",
"strand": false,
"transcript": "ENST00000905171.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911413.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1469C>A",
"hgvs_p": "p.Pro490His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581472.1",
"strand": false,
"transcript": "ENST00000911413.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330393.2",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Pro482His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317322.1",
"strand": false,
"transcript": "NM_001330393.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000584396.5",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Pro482His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464687.1",
"strand": false,
"transcript": "ENST00000584396.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960055.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1310C>A",
"hgvs_p": "p.Pro437His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630114.1",
"strand": false,
"transcript": "ENST00000960055.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 527,
"aa_ref": "P",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005257643.2",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1490C>A",
"hgvs_p": "p.Pro497His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257700.1",
"strand": false,
"transcript": "XM_005257643.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436662.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1463C>A",
"hgvs_p": "p.Pro488His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292618.1",
"strand": false,
"transcript": "XM_047436662.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6650,
"cdna_start": 3635,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436664.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1463C>A",
"hgvs_p": "p.Pro488His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292620.1",
"strand": false,
"transcript": "XM_047436664.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017025018.2",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Pro482His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880507.1",
"strand": false,
"transcript": "XM_017025018.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6632,
"cdna_start": 3617,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436665.1",
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Pro482His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292621.1",
"strand": false,
"transcript": "XM_047436665.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774145482",
"effect": "missense_variant",
"frequency_reference_population": 0.0000065703885,
"gene_hgnc_id": 12949,
"gene_symbol": "VEZF1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657039,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.356,
"pos": 57974567,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.455,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_007146.3"
}
]
}