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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: 15-29705713-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29705713&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29705713,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330239.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asp1628Gly",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asp1628Gly",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asp1628Gly",
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5358,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4655A>G",
"hgvs_p": "p.Asp1552Gly",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4655,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162A>G",
"hgvs_p": "p.Asp1721Gly",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5372,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162A>G",
"hgvs_p": "p.Asp1721Gly",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5238,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162A>G",
"hgvs_p": "p.Asp1721Gly",
"transcript": "NM_001355012.2",
"protein_id": "NP_001341941.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5372,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4895A>G",
"hgvs_p": "p.Asp1632Gly",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1759,
"cds_start": 4895,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5004,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asp1628Gly",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asp1628Gly",
"transcript": "NM_003257.5",
"protein_id": "NP_003248.3",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 7915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4655A>G",
"hgvs_p": "p.Asp1552Gly",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4655,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4828,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643A>G",
"hgvs_p": "p.Asp1548Gly",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643A>G",
"hgvs_p": "p.Asp1548Gly",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4692,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643A>G",
"hgvs_p": "p.Asp1548Gly",
"transcript": "NM_175610.4",
"protein_id": "NP_783297.2",
"transcript_support_level": null,
"aa_start": 1548,
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"aa_length": 1668,
"cds_start": 4643,
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"cdna_start": 5083,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643A>G",
"hgvs_p": "p.Asp1548Gly",
"transcript": "ENST00000545208.6",
"protein_id": "ENSP00000441202.2",
"transcript_support_level": 5,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4643,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asp99Gly",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 226,
"cds_start": 296,
"cds_end": null,
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"cdna_start": 297,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5213A>G",
"hgvs_p": "p.Asp1738Gly",
"transcript": "XM_017022521.2",
"protein_id": "XP_016878010.1",
"transcript_support_level": null,
"aa_start": 1738,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5213,
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"cds_length": 5637,
"cdna_start": 5423,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5213A>G",
"hgvs_p": "p.Asp1738Gly",
"transcript": "XM_017022522.2",
"protein_id": "XP_016878011.1",
"transcript_support_level": null,
"aa_start": 1738,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5213,
"cds_end": null,
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"cdna_start": 5423,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5213A>G",
"hgvs_p": "p.Asp1738Gly",
"transcript": "XM_017022523.2",
"protein_id": "XP_016878012.1",
"transcript_support_level": null,
"aa_start": 1738,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162A>G",
"hgvs_p": "p.Asp1721Gly",
"transcript": "XM_011521972.3",
"protein_id": "XP_011520274.2",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5162,
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"cdna_start": 5372,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4973A>G",
"hgvs_p": "p.Asp1658Gly",
"transcript": "XM_017022524.2",
"protein_id": "XP_016878013.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1798,
"cds_start": 4973,
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"cds_length": 5397,
"cdna_start": 5183,
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"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4946A>G",
"hgvs_p": "p.Asp1649Gly",
"transcript": "XM_017022525.2",
"protein_id": "XP_016878014.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1789,
"cds_start": 4946,
"cds_end": null,
"cds_length": 5370,
"cdna_start": 5522,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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{
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"BP4"
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"verdict": "Uncertain_significance",
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{
"score": 1,
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}