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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: 3-133934808-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=133934808&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 133934808,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005630.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1837T>C",
"hgvs_p": "p.Tyr613His",
"transcript": "NM_005630.3",
"protein_id": "NP_005621.2",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 643,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310926.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005630.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1837T>C",
"hgvs_p": "p.Tyr613His",
"transcript": "ENST00000310926.11",
"protein_id": "ENSP00000311291.4",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 643,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005630.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310926.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1876T>C",
"hgvs_p": "p.Tyr626His",
"transcript": "ENST00000860072.1",
"protein_id": "ENSP00000530131.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 656,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860072.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1867T>C",
"hgvs_p": "p.Tyr623His",
"transcript": "ENST00000860067.1",
"protein_id": "ENSP00000530126.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 653,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860067.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Tyr591His",
"transcript": "ENST00000860074.1",
"protein_id": "ENSP00000530133.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 621,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860074.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1756T>C",
"hgvs_p": "p.Tyr586His",
"transcript": "ENST00000860068.1",
"protein_id": "ENSP00000530127.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 616,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860068.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1741T>C",
"hgvs_p": "p.Tyr581His",
"transcript": "ENST00000860071.1",
"protein_id": "ENSP00000530130.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 611,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860071.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1720T>C",
"hgvs_p": "p.Tyr574His",
"transcript": "ENST00000860075.1",
"protein_id": "ENSP00000530134.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 604,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860075.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1699T>C",
"hgvs_p": "p.Tyr567His",
"transcript": "ENST00000860069.1",
"protein_id": "ENSP00000530128.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860069.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1669T>C",
"hgvs_p": "p.Tyr557His",
"transcript": "ENST00000860070.1",
"protein_id": "ENSP00000530129.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 587,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860070.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Tyr537His",
"transcript": "ENST00000493729.5",
"protein_id": "ENSP00000418893.1",
"transcript_support_level": 5,
"aa_start": 537,
"aa_end": null,
"aa_length": 567,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493729.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.1510T>C",
"hgvs_p": "p.Tyr504His",
"transcript": "ENST00000860073.1",
"protein_id": "ENSP00000530132.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 534,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "n.*399T>C",
"hgvs_p": null,
"transcript": "ENST00000481359.3",
"protein_id": "ENSP00000420028.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481359.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "n.*399T>C",
"hgvs_p": null,
"transcript": "ENST00000481359.3",
"protein_id": "ENSP00000420028.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481359.3"
}
],
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"dbsnp": "rs200115070",
"frequency_reference_population": 0.0001110725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 179,
"gnomad_exomes_af": 0.0001151,
"gnomad_genomes_af": 0.0000723884,
"gnomad_exomes_ac": 168,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8091458082199097,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.717,
"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": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005630.3",
"gene_symbol": "SLCO2A1",
"hgnc_id": 10955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1837T>C",
"hgvs_p": "p.Tyr613His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}