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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: 16-56502799-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56502799&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56502799,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000245157.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "NM_031885.5",
"protein_id": "NP_114091.4",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "ENST00000245157.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000245157.11",
"protein_id": "ENSP00000245157.5",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 976,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.828C>A",
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000682188.1",
"protein_id": "ENSP00000507655.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 736,
"cds_start": 814,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "NM_001377456.1",
"protein_id": "NP_001364385.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000682047.1",
"protein_id": "ENSP00000507699.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000682205.1",
"protein_id": "ENSP00000508377.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000682470.1",
"protein_id": "ENSP00000507654.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000682855.1",
"protein_id": "ENSP00000507027.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 721,
"cds_start": 814,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000683858.1",
"protein_id": "ENSP00000507657.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 705,
"cds_start": 814,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.739C>A",
"hgvs_p": "p.Arg247Arg",
"transcript": "ENST00000682930.1",
"protein_id": "ENSP00000507981.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 696,
"cds_start": 739,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.709C>A",
"hgvs_p": "p.Arg237Arg",
"transcript": "ENST00000684635.1",
"protein_id": "ENSP00000507335.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 686,
"cds_start": 709,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000682482.1",
"protein_id": "ENSP00000507903.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 679,
"cds_start": 688,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000568104.6",
"protein_id": "ENSP00000456289.1",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 675,
"cds_start": 814,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Arg",
"transcript": "ENST00000683875.1",
"protein_id": "ENSP00000507602.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 645,
"cds_start": 586,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Arg73Arg",
"transcript": "ENST00000682360.1",
"protein_id": "ENSP00000508007.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 522,
"cds_start": 217,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Arg73Arg",
"transcript": "ENST00000682737.1",
"protein_id": "ENSP00000506876.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 522,
"cds_start": 217,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "XM_047434412.1",
"protein_id": "XP_047290368.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 814,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 976,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.141C>A",
"hgvs_p": null,
"transcript": "ENST00000561853.1",
"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": 473,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.97C>A",
"hgvs_p": null,
"transcript": "ENST00000561877.2",
"protein_id": "ENSP00000454986.2",
"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": 2507,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.463C>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.*788C>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.811C>A",
"hgvs_p": null,
"transcript": "ENST00000562059.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "BBS2",
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}
],
"gene_symbol": "BBS2",
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-7,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.104,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000245157.11",
"gene_symbol": "BBS2",
"hgnc_id": 967,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}