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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: 16-56484848-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56484848&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56484848,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000245157.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "NM_031885.5",
"protein_id": "NP_114091.4",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "ENST00000245157.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "ENST00000245157.11",
"protein_id": "ENSP00000245157.5",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2241,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.5610G>C",
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288725",
"gene_hgnc_id": null,
"hgvs_c": "n.999G>C",
"hgvs_p": null,
"transcript": "ENST00000684388.1",
"protein_id": "ENSP00000507647.1",
"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": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2124G>C",
"hgvs_p": "p.Gln708His",
"transcript": "ENST00000682188.1",
"protein_id": "ENSP00000507655.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 736,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "NM_001377456.1",
"protein_id": "NP_001364385.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "ENST00000682047.1",
"protein_id": "ENSP00000507699.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "ENST00000682205.1",
"protein_id": "ENSP00000508377.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "ENST00000682470.1",
"protein_id": "ENSP00000507654.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>C",
"hgvs_p": "p.Gln693His",
"transcript": "ENST00000682855.1",
"protein_id": "ENSP00000507027.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2031G>C",
"hgvs_p": "p.Gln677His",
"transcript": "ENST00000683858.1",
"protein_id": "ENSP00000507657.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 705,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2004G>C",
"hgvs_p": "p.Gln668His",
"transcript": "ENST00000682930.1",
"protein_id": "ENSP00000507981.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 696,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Gln658His",
"transcript": "ENST00000684635.1",
"protein_id": "ENSP00000507335.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 686,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1953G>C",
"hgvs_p": "p.Gln651His",
"transcript": "ENST00000682482.1",
"protein_id": "ENSP00000507903.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 679,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1941G>C",
"hgvs_p": "p.Gln647His",
"transcript": "ENST00000568104.6",
"protein_id": "ENSP00000456289.1",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 675,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1851G>C",
"hgvs_p": "p.Gln617His",
"transcript": "ENST00000683875.1",
"protein_id": "ENSP00000507602.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 645,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1482G>C",
"hgvs_p": "p.Gln494His",
"transcript": "ENST00000682360.1",
"protein_id": "ENSP00000508007.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 522,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1482G>C",
"hgvs_p": "p.Gln494His",
"transcript": "ENST00000682737.1",
"protein_id": "ENSP00000506876.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 522,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2835,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.*1700G>C",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.3566G>C",
"hgvs_p": null,
"transcript": "ENST00000562813.2",
"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": 4304,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.924G>C",
"hgvs_p": null,
"transcript": "ENST00000564123.7",
"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": 1391,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.806G>C",
"hgvs_p": null,
"transcript": "ENST00000564459.6",
"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": 1094,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.3153G>C",
"hgvs_p": null,
"transcript": "ENST00000565859.2",
"protein_id": null,
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"computational_source_selected": "MetaRNN",
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"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AD,AR",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}