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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: 12-21196975-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21196975&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21196975,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_006446.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "NM_006446.5",
"protein_id": "NP_006437.3",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 691,
"cds_start": 757,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256958.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006446.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000256958.3",
"protein_id": "ENSP00000256958.2",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 691,
"cds_start": 757,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006446.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256958.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000870182.1",
"protein_id": "ENSP00000540241.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 691,
"cds_start": 757,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870182.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000870184.1",
"protein_id": "ENSP00000540243.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 691,
"cds_start": 757,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870184.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000870189.1",
"protein_id": "ENSP00000540248.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 691,
"cds_start": 757,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870189.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000870178.1",
"protein_id": "ENSP00000540237.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 690,
"cds_start": 757,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870178.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220*",
"transcript": "ENST00000870179.1",
"protein_id": "ENSP00000540238.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 658,
"cds_start": 658,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870179.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220*",
"transcript": "ENST00000870180.1",
"protein_id": "ENSP00000540239.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 658,
"cds_start": 658,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870180.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204*",
"transcript": "ENST00000870186.1",
"protein_id": "ENSP00000540245.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 642,
"cds_start": 610,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870186.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000870183.1",
"protein_id": "ENSP00000540242.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 574,
"cds_start": 757,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870183.1"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.728-3533C>T",
"hgvs_p": null,
"transcript": "ENST00000870181.1",
"protein_id": "ENSP00000540240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870181.1"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.728-3533C>T",
"hgvs_p": null,
"transcript": "ENST00000870188.1",
"protein_id": "ENSP00000540247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870188.1"
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.728-5516C>T",
"hgvs_p": null,
"transcript": "ENST00000870187.1",
"protein_id": "ENSP00000540246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": null,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870187.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"hgvs_c": "c.728-3533C>T",
"hgvs_p": null,
"transcript": "ENST00000870185.1",
"protein_id": "ENSP00000540244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870185.1"
}
],
"gene_symbol": "SLCO1B1",
"gene_hgnc_id": 10959,
"dbsnp": "rs183501729",
"frequency_reference_population": 0.00004834451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.0000451677,
"gnomad_genomes_af": 0.0000788447,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.237,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_006446.5",
"gene_symbol": "SLCO1B1",
"hgnc_id": 10959,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*"
}
],
"clinvar_disease": "Rotor syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Rotor syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}