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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: 12-21178615-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21178615&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21178615,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006446.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "NM_006446.5",
"protein_id": "NP_006437.3",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 691,
"cds_start": 521,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "ENST00000256958.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006446.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000256958.3",
"protein_id": "ENSP00000256958.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 691,
"cds_start": 521,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "NM_006446.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256958.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870182.1",
"protein_id": "ENSP00000540241.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 691,
"cds_start": 521,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870182.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870184.1",
"protein_id": "ENSP00000540243.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 691,
"cds_start": 521,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870184.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870189.1",
"protein_id": "ENSP00000540248.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 691,
"cds_start": 521,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870189.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870178.1",
"protein_id": "ENSP00000540237.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 690,
"cds_start": 521,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870178.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870179.1",
"protein_id": "ENSP00000540238.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 658,
"cds_start": 521,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870179.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870180.1",
"protein_id": "ENSP00000540239.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 658,
"cds_start": 521,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870180.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870181.1",
"protein_id": "ENSP00000540240.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 610,
"cds_start": 521,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870181.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870188.1",
"protein_id": "ENSP00000540247.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 609,
"cds_start": 521,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870188.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870183.1",
"protein_id": "ENSP00000540242.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 574,
"cds_start": 521,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870183.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870187.1",
"protein_id": "ENSP00000540246.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 555,
"cds_start": 521,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870187.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000870185.1",
"protein_id": "ENSP00000540244.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 493,
"cds_start": 521,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.482-307T>C",
"hgvs_p": null,
"transcript": "ENST00000870186.1",
"protein_id": "ENSP00000540245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870186.1"
}
],
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"dbsnp": "rs4149056",
"frequency_reference_population": 0.14229026,
"hom_count_reference_population": 17896,
"allele_count_reference_population": 228311,
"gnomad_exomes_af": 0.144588,
"gnomad_genomes_af": 0.120365,
"gnomad_exomes_ac": 209991,
"gnomad_genomes_ac": 18320,
"gnomad_exomes_homalt": 16472,
"gnomad_genomes_homalt": 1424,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0025148093700408936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.6134,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.58,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006446.5",
"gene_symbol": "SLCO1B1",
"hgnc_id": 10959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala"
}
],
"clinvar_disease": "Gilbert syndrome,Rotor syndrome,SLCO1B1-related disorder,atorvastatin response - Metabolism/PK,atorvastatin response - Toxicity,fluvastatin response - Metabolism/PK,fluvastatin response - Toxicity,hmg coa reductase inhibitors response - Toxicity,lovastatin acid response - Metabolism/PK,lovastatin response - Metabolism/PK,lovastatin response - Toxicity,not provided,not specified,pitavastatin response - Metabolism/PK,pravastatin response - Toxicity,rosuvastatin response - Metabolism/PK,rosuvastatin response - Toxicity,simvastatin acid response - Metabolism/PK,simvastatin response - Metabolism/PK,simvastatin response - Toxicity",
"clinvar_classification": "drug response",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "B:3 O:16",
"phenotype_combined": "not provided|rosuvastatin response - Metabolism/PK|Rotor syndrome|simvastatin acid response - Metabolism/PK|not specified|Gilbert syndrome|simvastatin response - Metabolism/PK|fluvastatin response - Metabolism/PK|fluvastatin response - Toxicity|lovastatin acid response - Metabolism/PK|SLCO1B1-related disorder|simvastatin response - Toxicity|hmg coa reductase inhibitors response - Toxicity|atorvastatin response - Toxicity|atorvastatin response - Metabolism/PK|lovastatin response - Metabolism/PK|pitavastatin response - Metabolism/PK|rosuvastatin response - Toxicity|lovastatin response - Toxicity|pravastatin response - Toxicity",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}