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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: 17-15701220-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15701220&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15701220,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001288642.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "NM_001130842.2",
"protein_id": "NP_001124314.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000583566.6",
"protein_id": "ENSP00000464063.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000464847.6",
"protein_id": "ENSP00000464218.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000395894.6",
"protein_id": "ENSP00000379231.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 116,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Arg8Cys",
"transcript": "ENST00000481540.1",
"protein_id": "ENSP00000467116.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 92,
"cds_start": 22,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"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.106C>T",
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "NM_001288642.2",
"protein_id": "NP_001275571.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 564,
"cds_start": 235,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "NM_020652.3",
"protein_id": "NP_065703.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000421016.5",
"protein_id": "ENSP00000397163.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000923182.1",
"protein_id": "ENSP00000593241.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 521,
"cds_start": 106,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"transcript": "NM_001288643.2",
"protein_id": "NP_001275572.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 511,
"cds_start": 76,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"transcript": "ENST00000593105.5",
"protein_id": "ENSP00000466154.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 511,
"cds_start": 76,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "ENST00000580393.5",
"protein_id": "ENSP00000462509.1",
"transcript_support_level": 4,
"aa_start": 79,
"aa_end": null,
"aa_length": 170,
"cds_start": 235,
"cds_end": null,
"cds_length": 514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580393.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000395893.6",
"protein_id": "ENSP00000379230.2",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 141,
"cds_start": 106,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395893.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000585194.5",
"protein_id": "ENSP00000462679.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 116,
"cds_start": 106,
"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": "ENST00000585194.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"transcript": "ENST00000472486.5",
"protein_id": "ENSP00000461982.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 106,
"cds_start": 76,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472486.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000580259.5",
"protein_id": "ENSP00000462182.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 60,
"cds_start": 106,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580259.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000583031.5",
"protein_id": "ENSP00000461939.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 59,
"cds_start": 106,
"cds_end": null,
"cds_length": 182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583031.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"transcript": "ENST00000581529.5",
"protein_id": "ENSP00000463915.1",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 50,
"cds_start": 76,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581529.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.-48C>T",
"hgvs_p": null,
"transcript": "NM_001369440.1",
"protein_id": "NP_001356369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.-116C>T",
"hgvs_p": null,
"transcript": "NM_001288644.2",
"protein_id": "NP_001275573.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF286A",
"gene_hgnc_id": 13501,
"hgvs_c": "c.-290C>T",
"hgvs_p": null,
"transcript": "NM_001288645.2",
"protein_id": "NP_001275574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"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"
},
{
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"verdict": "Likely_benign",
"transcript": "ENST00000413242.6",
"gene_symbol": "ZNF286A-TBC1D26",
"hgnc_id": 55384,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.106C>T",
"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
}