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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: 15-91289554-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=91289554&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 91289554,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394232.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_001323032.3",
"protein_id": "NP_001309961.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 12563,
"mane_select": "ENST00000394232.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "ENST00000394232.6",
"protein_id": "ENSP00000377779.1",
"transcript_support_level": 5,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 12563,
"mane_select": "NM_001323032.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "ENST00000330276.4",
"protein_id": "ENSP00000332818.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 11202,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "n.1742T>G",
"hgvs_p": null,
"transcript": "ENST00000557410.5",
"protein_id": "ENSP00000450992.1",
"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": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_001323031.2",
"protein_id": "NP_001309960.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 12559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_001323037.3",
"protein_id": "NP_001309966.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 12692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_001323038.3",
"protein_id": "NP_001309967.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 12604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_001323039.3",
"protein_id": "NP_001309968.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 12981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "NM_014848.7",
"protein_id": "NP_055663.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 12651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1541T>G",
"hgvs_p": "p.Phe514Cys",
"transcript": "NM_001323034.3",
"protein_id": "NP_001309963.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 616,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 12362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1409T>G",
"hgvs_p": "p.Phe470Cys",
"transcript": "NM_001323033.3",
"protein_id": "NP_001309962.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 572,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 12230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1313T>G",
"hgvs_p": "p.Phe438Cys",
"transcript": "NM_001323036.3",
"protein_id": "NP_001309965.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 540,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 11762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Phe430Cys",
"transcript": "NM_001167580.3",
"protein_id": "NP_001161052.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 532,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 11721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Phe430Cys",
"transcript": "NM_001323040.3",
"protein_id": "NP_001309969.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 532,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Phe430Cys",
"transcript": "ENST00000545111.6",
"protein_id": "ENSP00000443243.2",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 532,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "XM_005254998.4",
"protein_id": "XP_005255055.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 12621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "XM_017022761.2",
"protein_id": "XP_016878250.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 12572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "XM_017022762.2",
"protein_id": "XP_016878251.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 12707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys",
"transcript": "XM_047433392.1",
"protein_id": "XP_047289348.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 683,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 13069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"dbsnp": "rs200945374",
"frequency_reference_population": 0.000035311215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000342023,
"gnomad_genomes_af": 0.0000459529,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5710189342498779,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.456,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3231,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.093,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394232.6",
"gene_symbol": "SV2B",
"hgnc_id": 16874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Phe581Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}