← Back to variant description
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: 11-75169245-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75169245&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75169245,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007256.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Asn174Ile",
"transcript": "NM_007256.5",
"protein_id": "NP_009187.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 709,
"cds_start": 521,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": "ENST00000289575.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Asn174Ile",
"transcript": "ENST00000289575.10",
"protein_id": "ENSP00000289575.5",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 709,
"cds_start": 521,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": "NM_007256.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.455A>T",
"hgvs_p": "p.Asn152Ile",
"transcript": "ENST00000428359.6",
"protein_id": "ENSP00000388912.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 687,
"cds_start": 455,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.455A>T",
"hgvs_p": "p.Asn152Ile",
"transcript": "NM_001145211.3",
"protein_id": "NP_001138683.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 687,
"cds_start": 455,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "ENST00000532236.5",
"protein_id": "ENSP00000434112.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 593,
"cds_start": 173,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.89A>T",
"hgvs_p": "p.Asn30Ile",
"transcript": "NM_001145212.3",
"protein_id": "NP_001138684.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 565,
"cds_start": 89,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.89A>T",
"hgvs_p": "p.Asn30Ile",
"transcript": "ENST00000525650.5",
"protein_id": "ENSP00000436324.1",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 565,
"cds_start": 89,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Asn50Ile",
"transcript": "ENST00000526839.1",
"protein_id": "ENSP00000434742.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 147,
"cds_start": 149,
"cds_end": null,
"cds_length": 444,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.593A>T",
"hgvs_p": "p.Asn198Ile",
"transcript": "XM_017017157.2",
"protein_id": "XP_016872646.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 733,
"cds_start": 593,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.455A>T",
"hgvs_p": "p.Asn152Ile",
"transcript": "XM_047426333.1",
"protein_id": "XP_047282289.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 687,
"cds_start": 455,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.455A>T",
"hgvs_p": "p.Asn152Ile",
"transcript": "XM_047426334.1",
"protein_id": "XP_047282290.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 687,
"cds_start": 455,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.101-3134A>T",
"hgvs_p": null,
"transcript": "ENST00000454962.6",
"protein_id": "ENSP00000389653.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "n.294-3134A>T",
"hgvs_p": null,
"transcript": "ENST00000526660.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "n.329-3134A>T",
"hgvs_p": null,
"transcript": "ENST00000531756.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"hgvs_c": "c.*4A>T",
"hgvs_p": null,
"transcript": "ENST00000527180.5",
"protein_id": "ENSP00000436513.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLCO2B1",
"gene_hgnc_id": 10962,
"dbsnp": "rs759916743",
"frequency_reference_population": 0.000009912694,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102611,
"gnomad_genomes_af": 0.00000656789,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.518699586391449,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.117,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.337,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007256.5",
"gene_symbol": "SLCO2B1",
"hgnc_id": 10962,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Asn174Ile"
}
],
"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
}