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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: 15-29705668-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29705668&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29705668,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001301025.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"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.4928A>G",
"hgvs_p": "p.Asn1643Ser",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4928,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330239.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4928A>G",
"hgvs_p": "p.Asn1643Ser",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4928,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614355.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4928A>G",
"hgvs_p": "p.Asn1643Ser",
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4928,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5403,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346128.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4700A>G",
"hgvs_p": "p.Asn1567Ser",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4700,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4942,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400011.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.5207A>G",
"hgvs_p": "p.Asn1736Ser",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301025.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.5207A>G",
"hgvs_p": "p.Asn1736Ser",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5283,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356107.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.5207A>G",
"hgvs_p": "p.Asn1736Ser",
"transcript": "NM_001355012.2",
"protein_id": "NP_001341941.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355012.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4940A>G",
"hgvs_p": "p.Asn1647Ser",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 1759,
"cds_start": 4940,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5049,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355013.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4928A>G",
"hgvs_p": "p.Asn1643Ser",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4928,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355014.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4928A>G",
"hgvs_p": "p.Asn1643Ser",
"transcript": "NM_003257.5",
"protein_id": "NP_003248.3",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4928,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 7915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003257.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4739A>G",
"hgvs_p": "p.Asn1580Ser",
"transcript": "ENST00000934394.1",
"protein_id": "ENSP00000604453.1",
"transcript_support_level": null,
"aa_start": 1580,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4739,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5199,
"cdna_end": null,
"cdna_length": 7021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934394.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4700A>G",
"hgvs_p": "p.Asn1567Ser",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4700,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4873,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301026.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4688A>G",
"hgvs_p": "p.Asn1563Ser",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5128,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355015.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4688A>G",
"hgvs_p": "p.Asn1563Ser",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4737,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677774.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4739A>G",
"hgvs_p": "p.Asn1580Ser",
"transcript": "ENST00000934392.1",
"protein_id": "ENSP00000604451.1",
"transcript_support_level": null,
"aa_start": 1580,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4739,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5214,
"cdna_end": null,
"cdna_length": 6976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934392.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4631A>G",
"hgvs_p": "p.Asn1544Ser",
"transcript": "ENST00000934390.1",
"protein_id": "ENSP00000604449.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4631,
"cds_end": null,
"cds_length": 5010,
"cdna_start": 5111,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934390.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4688A>G",
"hgvs_p": "p.Asn1563Ser",
"transcript": "NM_175610.4",
"protein_id": "NP_783297.2",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 5128,
"cdna_end": null,
"cdna_length": 7675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175610.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.4688A>G",
"hgvs_p": "p.Asn1563Ser",
"transcript": "ENST00000545208.6",
"protein_id": "ENSP00000441202.2",
"transcript_support_level": 5,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4688,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545208.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4631A>G",
"hgvs_p": "p.Asn1544Ser",
"transcript": "ENST00000934391.1",
"protein_id": "ENSP00000604450.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 5110,
"cdna_end": null,
"cdna_length": 6872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934391.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4688A>G",
"hgvs_p": "p.Asn1563Ser",
"transcript": "ENST00000934393.1",
"protein_id": "ENSP00000604452.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 5158,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934393.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4337A>G",
"hgvs_p": "p.Asn1446Ser",
"transcript": "ENST00000900272.1",
"protein_id": "ENSP00000570331.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1571,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 4779,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900272.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.341A>G",
"hgvs_p": "p.Asn114Ser",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
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"gnomad_exomes_af": 0.0000560922,
"gnomad_genomes_af": 0.000184022,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029568254947662354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.1005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.835,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001301025.3",
"gene_symbol": "TJP1",
"hgnc_id": 11827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5207A>G",
"hgvs_p": "p.Asn1736Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000841149.1",
"gene_symbol": "LCIIAR",
"hgnc_id": 56346,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.449T>C",
"hgvs_p": null
}
],
"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
}