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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: 10-102834074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102834074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102834074,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000369887.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239*",
"transcript": "NM_000102.4",
"protein_id": "NP_000093.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 508,
"cds_start": 715,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": "ENST00000369887.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239*",
"transcript": "ENST00000369887.4",
"protein_id": "ENSP00000358903.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 508,
"cds_start": 715,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": "NM_000102.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239*",
"transcript": "ENST00000639393.1",
"protein_id": "ENSP00000492651.1",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 509,
"cds_start": 715,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "n.1631C>T",
"hgvs_p": null,
"transcript": "ENST00000489268.1",
"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": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "n.477C>T",
"hgvs_p": null,
"transcript": "ENST00000640633.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.666+711C>T",
"hgvs_p": null,
"transcript": "ENST00000638971.1",
"protein_id": "ENSP00000492313.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.666+711C>T",
"hgvs_p": null,
"transcript": "ENST00000638190.1",
"protein_id": "ENSP00000492539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.298-866C>T",
"hgvs_p": null,
"transcript": "ENST00000638272.1",
"protein_id": "ENSP00000491508.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1227,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WBP1L",
"gene_hgnc_id": 23510,
"hgvs_c": "n.152-103G>A",
"hgvs_p": null,
"transcript": "ENST00000369884.4",
"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": 491,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP17A1-AS1",
"gene_hgnc_id": 31671,
"hgvs_c": "n.197-103G>A",
"hgvs_p": null,
"transcript": "XR_428804.2",
"protein_id": null,
"transcript_support_level": null,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP1L",
"gene_hgnc_id": 23510,
"hgvs_c": "n.*3105G>A",
"hgvs_p": null,
"transcript": "ENST00000647664.1",
"protein_id": "ENSP00000498131.1",
"transcript_support_level": null,
"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": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"dbsnp": "rs104894136",
"frequency_reference_population": 0.0000016909058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000169091,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23000000417232513,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.838,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000369887.4",
"gene_symbol": "CYP17A1",
"hgnc_id": 2593,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000369884.4",
"gene_symbol": "WBP1L",
"hgnc_id": 23510,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.152-103G>A",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_428804.2",
"gene_symbol": "CYP17A1-AS1",
"hgnc_id": 31671,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.197-103G>A",
"hgvs_p": null
}
],
"clinvar_disease": " combined partial, susceptibility to,17-alpha-hydroxylase/17,20-lyase deficiency,Breast cancer,Deficiency of steroid 17-alpha-monooxygenase,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"phenotype_combined": "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial|Breast cancer, susceptibility to|not provided|Deficiency of steroid 17-alpha-monooxygenase",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}