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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: 15-29704217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29704217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29704217,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001355012.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5157G>A",
"hgvs_p": "p.Ala1719Ala",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330239.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5157G>A",
"hgvs_p": "p.Ala1719Ala",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614355.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4929G>A",
"hgvs_p": "p.Ala1643Ala",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4929,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400011.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5152+5G>A",
"hgvs_p": null,
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1748,
"cds_start": null,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346128.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Ala1812Ala",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5436,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301025.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Ala1812Ala",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5436,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356107.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5169G>A",
"hgvs_p": "p.Ala1723Ala",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1759,
"cds_start": 5169,
"cds_end": null,
"cds_length": 5280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355013.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5157G>A",
"hgvs_p": "p.Ala1719Ala",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355014.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4968G>A",
"hgvs_p": "p.Ala1656Ala",
"transcript": "ENST00000934394.1",
"protein_id": "ENSP00000604453.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4968,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934394.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4929G>A",
"hgvs_p": "p.Ala1643Ala",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4929,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301026.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4917G>A",
"hgvs_p": "p.Ala1639Ala",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4917,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355015.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4917G>A",
"hgvs_p": "p.Ala1639Ala",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4917,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677774.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4860G>A",
"hgvs_p": "p.Ala1620Ala",
"transcript": "ENST00000934390.1",
"protein_id": "ENSP00000604449.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4860,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934390.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4566G>A",
"hgvs_p": "p.Ala1522Ala",
"transcript": "ENST00000900272.1",
"protein_id": "ENSP00000570331.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1571,
"cds_start": 4566,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900272.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Ala190Ala",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 226,
"cds_start": 570,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400007.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5487G>A",
"hgvs_p": "p.Ala1829Ala",
"transcript": "XM_017022521.2",
"protein_id": "XP_016878010.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5487,
"cds_end": null,
"cds_length": 5637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022521.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5487G>A",
"hgvs_p": "p.Ala1829Ala",
"transcript": "XM_017022522.2",
"protein_id": "XP_016878011.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5487,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022522.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Ala1812Ala",
"transcript": "XM_011521972.3",
"protein_id": "XP_011520274.2",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5436,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521972.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5247G>A",
"hgvs_p": "p.Ala1749Ala",
"transcript": "XM_017022524.2",
"protein_id": "XP_016878013.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5247,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022524.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5220G>A",
"hgvs_p": "p.Ala1740Ala",
"transcript": "XM_017022525.2",
"protein_id": "XP_016878014.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 1789,
"cds_start": 5220,
"cds_end": null,
"cds_length": 5370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022525.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5208G>A",
"hgvs_p": "p.Ala1736Ala",
"transcript": "XM_017022526.2",
"protein_id": "XP_016878015.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1785,
"cds_start": 5208,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022526.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5202G>A",
"hgvs_p": "p.Ala1734Ala",
"transcript": "XM_017022527.2",
"protein_id": "XP_016878016.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5202,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.15000000596046448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9900000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.99997890032017,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 5,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001355012.2",
"gene_symbol": "TJP1",
"hgnc_id": 11827,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5431+5G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000841149.1",
"gene_symbol": "LCIIAR",
"hgnc_id": 56346,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327-1329C>T",
"hgvs_p": null
}
],
"clinvar_disease": "TJP1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TJP1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}