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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: 16-56496982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56496982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BBS2",
"hgnc_id": 967,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_031885.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288725",
"hgnc_id": null,
"hgvs_c": "n.815G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000684388.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 46,
"alphamissense_prediction": null,
"alphamissense_score": 0.5864,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "BBS2-related disorder,Bardet-Biedl syndrome,Bardet-Biedl syndrome 2,Retinal dystrophy,Retinitis pigmentosa 74",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9013262987136841,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_031885.5",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000245157.11",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000565781.6",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "n.5426G>A",
"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": 6,
"exon_rank_end": null,
"feature": "ENST00000684388.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288725",
"hgvs_c": "n.815G>A",
"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": "H",
"aa_end": null,
"aa_length": 736,
"aa_ref": "R",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682188.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001377456.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682047.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682205.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682470.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682855.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000854960.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"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": "H",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966325.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628His",
"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": "H",
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"aa_length": 710,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000854962.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621His",
"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": "H",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1859,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000854961.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1859G>A",
"hgvs_p": "p.Arg620His",
"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": "H",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000683858.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1847G>A",
"hgvs_p": "p.Arg616His",
"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": "H",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923962.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Arg609His",
"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": "H",
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"aa_length": 698,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923963.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Arg609His",
"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": "H",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2003,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682930.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Arg607His",
"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": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000684635.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597His",
"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": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966324.1",
"gene_hgnc_id": 967,
"gene_symbol": "BBS2",
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597His",
"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": "H",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 590,
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