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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: 4-88118157-TAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88118157&ref=TAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88118157,
"ref": "TAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000237612.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_004827.3",
"protein_id": "NP_004818.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000237612.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "ENST00000237612.8",
"protein_id": "ENSP00000237612.3",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_004827.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "ENST00000515655.5",
"protein_id": "ENSP00000426917.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 611,
"cds_start": 791,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001348985.1",
"protein_id": "NP_001335914.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001348986.2",
"protein_id": "NP_001335915.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001348988.1",
"protein_id": "NP_001335917.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001348989.2",
"protein_id": "NP_001335918.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "ENST00000650821.1",
"protein_id": "ENSP00000498246.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001348987.1",
"protein_id": "NP_001335916.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 653,
"cds_start": 791,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001441208.1",
"protein_id": "NP_001428137.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 644,
"cds_start": 791,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001441209.1",
"protein_id": "NP_001428138.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 621,
"cds_start": 791,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "NM_001257386.2",
"protein_id": "NP_001244315.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 611,
"cds_start": 791,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.638_639delTT",
"hgvs_p": "p.Leu213fs",
"transcript": "NM_001441210.1",
"protein_id": "NP_001428139.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 604,
"cds_start": 638,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.581_582delTT",
"hgvs_p": "p.Leu194fs",
"transcript": "NM_001441211.1",
"protein_id": "NP_001428140.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 585,
"cds_start": 581,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.581_582delTT",
"hgvs_p": "p.Leu194fs",
"transcript": "NM_001441212.1",
"protein_id": "NP_001428141.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 585,
"cds_start": 581,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.581_582delTT",
"hgvs_p": "p.Leu194fs",
"transcript": "NM_001441213.1",
"protein_id": "NP_001428142.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 583,
"cds_start": 581,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "XM_011532420.4",
"protein_id": "XP_011530722.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 655,
"cds_start": 791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs",
"transcript": "XM_017008852.3",
"protein_id": "XP_016864341.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 653,
"cds_start": 791,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"dbsnp": "rs387906870",
"frequency_reference_population": 0.00004337056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000430967,
"gnomad_genomes_af": 0.0000460012,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.937,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000237612.8",
"gene_symbol": "ABCG2",
"hgnc_id": 74,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.791_792delTT",
"hgvs_p": "p.Leu264fs"
}
],
"clinvar_disease": " JUNIOR SYSTEM, QUANTITATIVE TRAIT LOCUS 1, SERUM,BLOOD GROUP,URIC ACID CONCENTRATION,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:2",
"phenotype_combined": "BLOOD GROUP, JUNIOR SYSTEM|not specified|URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1;BLOOD GROUP, JUNIOR SYSTEM|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}