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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: 17-15716242-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15716242&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15716242,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001288642.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "NM_001130842.2",
"protein_id": "NP_001124314.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000583566.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130842.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "ENST00000583566.6",
"protein_id": "ENSP00000464063.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130842.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583566.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "ENST00000464847.6",
"protein_id": "ENSP00000464218.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464847.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.*226T>C",
"hgvs_p": null,
"transcript": "ENST00000395894.6",
"protein_id": "ENSP00000379231.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395894.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A-TBC1D26",
"gene_hgnc_id": 55384,
"hgvs_c": "n.518T>C",
"hgvs_p": null,
"transcript": "ENST00000413242.6",
"protein_id": "ENSP00000458062.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413242.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Leu216Ser",
"transcript": "NM_001288642.2",
"protein_id": "NP_001275571.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 564,
"cds_start": 647,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288642.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "NM_020652.3",
"protein_id": "NP_065703.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020652.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "ENST00000421016.5",
"protein_id": "ENSP00000397163.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421016.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "ENST00000923182.1",
"protein_id": "ENSP00000593241.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 521,
"cds_start": 518,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923182.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.488T>C",
"hgvs_p": "p.Leu163Ser",
"transcript": "NM_001288643.2",
"protein_id": "NP_001275572.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 511,
"cds_start": 488,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288643.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.488T>C",
"hgvs_p": "p.Leu163Ser",
"transcript": "ENST00000593105.5",
"protein_id": "ENSP00000466154.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 511,
"cds_start": 488,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593105.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.365T>C",
"hgvs_p": "p.Leu122Ser",
"transcript": "NM_001369440.1",
"protein_id": "NP_001356369.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 470,
"cds_start": 365,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369440.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288644.2",
"protein_id": "NP_001275573.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288644.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288645.2",
"protein_id": "NP_001275574.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288645.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288646.2",
"protein_id": "NP_001275575.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288646.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288647.2",
"protein_id": "NP_001275576.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288647.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288648.2",
"protein_id": "NP_001275577.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288648.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001288649.2",
"protein_id": "NP_001275578.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288649.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001369436.1",
"protein_id": "NP_001356365.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369436.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001369437.1",
"protein_id": "NP_001356366.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369437.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "NM_001369438.1",
"protein_id": "NP_001356367.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 409,
"cds_start": 182,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369438.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Ser",
"transcript": "ENST00000579694.5",
"protein_id": "ENSP00000467718.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 118,
"cds_start": 182,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579694.5"
},
{
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"dbsnp": "rs752447639",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.05914950370788574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001288642.2",
"gene_symbol": "ZNF286A",
"hgnc_id": 13501,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Leu216Ser"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000413242.6",
"gene_symbol": "ZNF286A-TBC1D26",
"hgnc_id": 55384,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.518T>C",
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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
}