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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: 1-156311164-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156311164&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156311164,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_005998.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1186delC",
"hgvs_p": "p.Gln396fs",
"transcript": "NM_005998.5",
"protein_id": "NP_005989.3",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 545,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "ENST00000295688.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005998.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1186delC",
"hgvs_p": "p.Gln396fs",
"transcript": "ENST00000295688.8",
"protein_id": "ENSP00000295688.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 545,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "NM_005998.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295688.8"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1207delC",
"hgvs_p": "p.Gln403fs",
"transcript": "ENST00000954294.1",
"protein_id": "ENSP00000624353.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 552,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954294.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1201delC",
"hgvs_p": "p.Gln401fs",
"transcript": "ENST00000898516.1",
"protein_id": "ENSP00000568575.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 550,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898516.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1186delC",
"hgvs_p": "p.Gln396fs",
"transcript": "ENST00000940011.1",
"protein_id": "ENSP00000610070.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 545,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940011.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1183delC",
"hgvs_p": "p.Gln395fs",
"transcript": "ENST00000940013.1",
"protein_id": "ENSP00000610072.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 544,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940013.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1186delC",
"hgvs_p": "p.Gln396fs",
"transcript": "ENST00000954292.1",
"protein_id": "ENSP00000624351.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 543,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954292.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1174delC",
"hgvs_p": "p.Gln392fs",
"transcript": "ENST00000940017.1",
"protein_id": "ENSP00000610076.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 541,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940017.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1165delC",
"hgvs_p": "p.Gln389fs",
"transcript": "ENST00000940012.1",
"protein_id": "ENSP00000610071.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 538,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940012.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1135delC",
"hgvs_p": "p.Gln379fs",
"transcript": "ENST00000954295.1",
"protein_id": "ENSP00000624354.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 528,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954295.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1123delC",
"hgvs_p": "p.Gln375fs",
"transcript": "ENST00000940020.1",
"protein_id": "ENSP00000610079.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 524,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940020.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1120delC",
"hgvs_p": "p.Gln374fs",
"transcript": "ENST00000940022.1",
"protein_id": "ENSP00000610081.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 523,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940022.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1072delC",
"hgvs_p": "p.Gln358fs",
"transcript": "NM_001008800.3",
"protein_id": "NP_001008800.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 507,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008800.3"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1072delC",
"hgvs_p": "p.Gln358fs",
"transcript": "ENST00000368259.6",
"protein_id": "ENSP00000357242.2",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 507,
"cds_start": 1072,
"cds_end": null,
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"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368259.6"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1069delC",
"hgvs_p": "p.Gln357fs",
"transcript": "ENST00000954293.1",
"protein_id": "ENSP00000624352.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 506,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954293.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1186delC",
"hgvs_p": "p.Gln396fs",
"transcript": "ENST00000940018.1",
"protein_id": "ENSP00000610077.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 501,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940018.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1051delC",
"hgvs_p": "p.Gln351fs",
"transcript": "ENST00000472765.6",
"protein_id": "ENSP00000431543.1",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 500,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472765.6"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1036delC",
"hgvs_p": "p.Gln346fs",
"transcript": "ENST00000940016.1",
"protein_id": "ENSP00000610075.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 495,
"cds_start": 1036,
"cds_end": null,
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"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940016.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.913delC",
"hgvs_p": "p.Gln305fs",
"transcript": "ENST00000940021.1",
"protein_id": "ENSP00000610080.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 454,
"cds_start": 913,
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"cdna_start": 976,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940021.1"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.817delC",
"hgvs_p": "p.Gln273fs",
"transcript": "ENST00000940015.1",
"protein_id": "ENSP00000610074.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 422,
"cds_start": 817,
"cds_end": null,
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"cdna_start": 938,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940015.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.736delC",
"hgvs_p": "p.Gln246fs",
"transcript": "ENST00000898517.1",
"protein_id": "ENSP00000568576.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 395,
"cds_start": 736,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898517.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.670delC",
"hgvs_p": "p.Gln224fs",
"transcript": "ENST00000940019.1",
"protein_id": "ENSP00000610078.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 373,
"cds_start": 670,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940019.1"
},
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{
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"verdict": "Pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}