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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: 16-56499883-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56499883&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BBS2",
"hgnc_id": 967,
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_031885.5",
"verdict": "Likely_benign"
},
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288725",
"hgnc_id": null,
"hgvs_c": "n.342G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "ENST00000684388.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate,BP7",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Bardet-Biedl syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.12999999523162842,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_031885.5",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245157.11",
"protein_coding": true,
"protein_id": "NP_114091.4",
"strand": false,
"transcript": "NM_031885.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000245157.11",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031885.5",
"protein_coding": true,
"protein_id": "ENSP00000245157.5",
"strand": false,
"transcript": "ENST00000245157.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000565781.6",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "n.3744G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565781.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684388.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288725",
"hgvs_c": "n.342G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507647.1",
"strand": false,
"transcript": "ENST00000684388.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 736,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000682188.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507655.1",
"strand": false,
"transcript": "ENST00000682188.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001377456.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364385.1",
"strand": false,
"transcript": "NM_001377456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000682047.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507699.1",
"strand": false,
"transcript": "ENST00000682047.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000682205.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508377.1",
"strand": false,
"transcript": "ENST00000682205.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000682470.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507654.1",
"strand": false,
"transcript": "ENST00000682470.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000682855.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507027.1",
"strand": false,
"transcript": "ENST00000682855.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000854960.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525019.1",
"strand": false,
"transcript": "ENST00000854960.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 717,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000966325.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Ser474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636384.1",
"strand": false,
"transcript": "ENST00000966325.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 710,
"aa_ref": "S",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000854962.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1389G>T",
"hgvs_p": "p.Ser463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525021.1",
"strand": false,
"transcript": "ENST00000854962.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "S",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1386,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000854961.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Ser462Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525020.1",
"strand": false,
"transcript": "ENST00000854961.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "S",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000683858.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1374G>T",
"hgvs_p": "p.Ser458Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507657.1",
"strand": false,
"transcript": "ENST00000683858.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 698,
"aa_ref": "S",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1353,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923962.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1353G>T",
"hgvs_p": "p.Ser451Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594021.1",
"strand": false,
"transcript": "ENST00000923962.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 698,
"aa_ref": "S",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1353,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923963.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1353G>T",
"hgvs_p": "p.Ser451Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594022.1",
"strand": false,
"transcript": "ENST00000923963.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 696,
"aa_ref": "S",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1347,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682930.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1347G>T",
"hgvs_p": "p.Ser449Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507981.1",
"strand": false,
"transcript": "ENST00000682930.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1317,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684635.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1317G>T",
"hgvs_p": "p.Ser439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507335.1",
"strand": false,
"transcript": "ENST00000684635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1317,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966324.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1317G>T",
"hgvs_p": "p.Ser439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636383.1",
"strand": false,
"transcript": "ENST00000966324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 679,
"aa_ref": "S",
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