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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: 15-29701648-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29701648&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29701648,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330239.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5254C>T",
"hgvs_p": "p.Pro1752Ser",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5254,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5694,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5254C>T",
"hgvs_p": "p.Pro1752Ser",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5254,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5694,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Pro1732Ser",
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1748,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5669,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5026C>T",
"hgvs_p": "p.Pro1676Ser",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5533C>T",
"hgvs_p": "p.Pro1845Ser",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5533,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5743,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5533C>T",
"hgvs_p": "p.Pro1845Ser",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1845,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5533,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5473C>T",
"hgvs_p": "p.Pro1825Ser",
"transcript": "NM_001355012.2",
"protein_id": "NP_001341941.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5473,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5683,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5227C>T",
"hgvs_p": "p.Pro1743Ser",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 1759,
"cds_start": 5227,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5336,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5215C>T",
"hgvs_p": "p.Pro1739Ser",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5215,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5655,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Pro1732Ser",
"transcript": "NM_003257.5",
"protein_id": "NP_003248.3",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1748,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5634,
"cdna_end": null,
"cdna_length": 7915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5026C>T",
"hgvs_p": "p.Pro1676Ser",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5199,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5014C>T",
"hgvs_p": "p.Pro1672Ser",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1688,
"cds_start": 5014,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5454,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5014C>T",
"hgvs_p": "p.Pro1672Ser",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1688,
"cds_start": 5014,
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"cds_length": 5067,
"cdna_start": 5063,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4954C>T",
"hgvs_p": "p.Pro1652Ser",
"transcript": "NM_175610.4",
"protein_id": "NP_783297.2",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4954,
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"cdna_start": 5394,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4954C>T",
"hgvs_p": "p.Pro1652Ser",
"transcript": "ENST00000545208.6",
"protein_id": "ENSP00000441202.2",
"transcript_support_level": 5,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Pro210Ser",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 226,
"cds_start": 628,
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"cdna_start": 629,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5584C>T",
"hgvs_p": "p.Pro1862Ser",
"transcript": "XM_017022521.2",
"protein_id": "XP_016878010.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5584,
"cds_end": null,
"cds_length": 5637,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5545C>T",
"hgvs_p": "p.Pro1849Ser",
"transcript": "XM_017022522.2",
"protein_id": "XP_016878011.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5545,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 5755,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5524C>T",
"hgvs_p": "p.Pro1842Ser",
"transcript": "XM_017022523.2",
"protein_id": "XP_016878012.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5494C>T",
"hgvs_p": "p.Pro1832Ser",
"transcript": "XM_011521972.3",
"protein_id": "XP_011520274.2",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5494,
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"cdna_start": 5704,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5344C>T",
"hgvs_p": "p.Pro1782Ser",
"transcript": "XM_017022524.2",
"protein_id": "XP_016878013.1",
"transcript_support_level": null,
"aa_start": 1782,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5344,
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"cds_length": 5397,
"cdna_start": 5554,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5317C>T",
"hgvs_p": "p.Pro1773Ser",
"transcript": "XM_017022525.2",
"protein_id": "XP_016878014.1",
"transcript_support_level": null,
"aa_start": 1773,
"aa_end": null,
"aa_length": 1789,
"cds_start": 5317,
"cds_end": null,
"cds_length": 5370,
"cdna_start": 5893,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}