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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: 16-56510920-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56510920&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56510920,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000245157.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "NM_031885.5",
"protein_id": "NP_114091.4",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "ENST00000245157.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000245157.11",
"protein_id": "ENSP00000245157.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "NM_031885.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.486delG",
"hgvs_p": null,
"transcript": "ENST00000565781.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000682188.1",
"protein_id": "ENSP00000507655.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 736,
"cds_start": 472,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "NM_001377456.1",
"protein_id": "NP_001364385.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000682047.1",
"protein_id": "ENSP00000507699.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000682205.1",
"protein_id": "ENSP00000508377.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000682470.1",
"protein_id": "ENSP00000507654.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000682855.1",
"protein_id": "ENSP00000507027.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 721,
"cds_start": 472,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000683858.1",
"protein_id": "ENSP00000507657.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 705,
"cds_start": 472,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.397delG",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000682930.1",
"protein_id": "ENSP00000507981.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 696,
"cds_start": 397,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000684635.1",
"protein_id": "ENSP00000507335.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 686,
"cds_start": 472,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.346delG",
"hgvs_p": "p.Val116fs",
"transcript": "ENST00000682482.1",
"protein_id": "ENSP00000507903.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 679,
"cds_start": 346,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "ENST00000568104.6",
"protein_id": "ENSP00000456289.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 675,
"cds_start": 472,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.244delG",
"hgvs_p": "p.Val82fs",
"transcript": "ENST00000683875.1",
"protein_id": "ENSP00000507602.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 645,
"cds_start": 244,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.-126delG",
"hgvs_p": null,
"transcript": "ENST00000682360.1",
"protein_id": "ENSP00000508007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.-126delG",
"hgvs_p": null,
"transcript": "ENST00000682737.1",
"protein_id": "ENSP00000506876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.25delG",
"hgvs_p": "p.Val9fs",
"transcript": "ENST00000569941.6",
"protein_id": "ENSP00000456741.2",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 54,
"cds_start": 25,
"cds_end": null,
"cds_length": 165,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.472delG",
"hgvs_p": "p.Val158fs",
"transcript": "XM_047434412.1",
"protein_id": "XP_047290368.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 361,
"cds_start": 472,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.121delG",
"hgvs_p": null,
"transcript": "ENST00000561951.5",
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.*446delG",
"hgvs_p": null,
"transcript": "ENST00000562012.2",
"protein_id": "ENSP00000455651.2",
"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": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.469delG",
"hgvs_p": null,
"transcript": "ENST00000562059.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Bardet-biedl syndrome 1/2, digenic|Bardet-Biedl syndrome|Bardet-Biedl syndrome 2;Retinitis pigmentosa 74",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}