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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: 4-88092344-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88092344&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88092344,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000237612.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "NM_004827.3",
"protein_id": "NP_004818.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000237612.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "ENST00000237612.8",
"protein_id": "ENSP00000237612.3",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_004827.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.*12G>A",
"hgvs_p": null,
"transcript": "ENST00000515655.5",
"protein_id": "ENSP00000426917.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "NM_001348985.1",
"protein_id": "NP_001335914.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "NM_001348986.2",
"protein_id": "NP_001335915.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "NM_001348988.1",
"protein_id": "NP_001335917.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "NM_001348989.2",
"protein_id": "NP_001335918.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "ENST00000650821.1",
"protein_id": "ENSP00000498246.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Asp618Asn",
"transcript": "NM_001348987.1",
"protein_id": "NP_001335916.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 653,
"cds_start": 1852,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Asp609Asn",
"transcript": "NM_001441208.1",
"protein_id": "NP_001428137.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 644,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Asp586Asn",
"transcript": "NM_001441209.1",
"protein_id": "NP_001428138.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 621,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Asp569Asn",
"transcript": "NM_001441210.1",
"protein_id": "NP_001428139.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 604,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Asp550Asn",
"transcript": "NM_001441211.1",
"protein_id": "NP_001428140.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 585,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Asp550Asn",
"transcript": "NM_001441212.1",
"protein_id": "NP_001428141.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 585,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Asp548Asn",
"transcript": "NM_001441213.1",
"protein_id": "NP_001428142.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 583,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn",
"transcript": "XM_011532420.4",
"protein_id": "XP_011530722.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 655,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Asp618Asn",
"transcript": "XM_017008852.3",
"protein_id": "XP_016864341.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 653,
"cds_start": 1852,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.*12G>A",
"hgvs_p": null,
"transcript": "NM_001257386.2",
"protein_id": "NP_001244315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"dbsnp": "rs34783571",
"frequency_reference_population": 0.0050683343,
"hom_count_reference_population": 60,
"allele_count_reference_population": 8175,
"gnomad_exomes_af": 0.00525029,
"gnomad_genomes_af": 0.00332291,
"gnomad_exomes_ac": 7669,
"gnomad_genomes_ac": 506,
"gnomad_exomes_homalt": 58,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006415635347366333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.1215,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.806,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000237612.8",
"gene_symbol": "ABCG2",
"hgnc_id": 74,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Asp620Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}