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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: 3-42201036-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42201036&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42201036,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000327628.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "NM_001042646.3",
"protein_id": "NP_001036111.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 953,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": "ENST00000327628.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "ENST00000327628.10",
"protein_id": "ENSP00000328998.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 953,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": "NM_001042646.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1238_1239delAG",
"hgvs_p": "p.Glu413fs",
"transcript": "ENST00000341421.7",
"protein_id": "ENSP00000340702.3",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 686,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "ENST00000449246.5",
"protein_id": "ENSP00000410717.1",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 556,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1496_1497delAG",
"hgvs_p": "p.Glu499fs",
"transcript": "ENST00000673621.3",
"protein_id": "ENSP00000500819.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 981,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "NM_001349246.2",
"protein_id": "NP_001336175.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 932,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1238_1239delAG",
"hgvs_p": "p.Glu413fs",
"transcript": "NM_001410741.1",
"protein_id": "NP_001397670.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 895,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1238_1239delAG",
"hgvs_p": "p.Glu413fs",
"transcript": "ENST00000396175.5",
"protein_id": "ENSP00000379478.1",
"transcript_support_level": 5,
"aa_start": 413,
"aa_end": null,
"aa_length": 895,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "NM_001349249.1",
"protein_id": "NP_001336178.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 879,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "NM_001349248.1",
"protein_id": "NP_001336177.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 858,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1100_1101delAG",
"hgvs_p": "p.Glu367fs",
"transcript": "ENST00000487159.5",
"protein_id": "ENSP00000486713.1",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 849,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1100_1101delAG",
"hgvs_p": "p.Glu367fs",
"transcript": "NM_001349245.1",
"protein_id": "NP_001336174.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 828,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "NM_001265608.2",
"protein_id": "NP_001252537.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 744,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "NM_001349247.2",
"protein_id": "NP_001336176.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 712,
"cds_start": 1412,
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"cds_length": 2139,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 5221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1238_1239delAG",
"hgvs_p": "p.Glu413fs",
"transcript": "NM_014965.5",
"protein_id": "NP_055780.2",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 686,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "NM_001265609.2",
"protein_id": "NP_001252538.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 670,
"cds_start": 1190,
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"cds_length": 2013,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "ENST00000613405.4",
"protein_id": "ENSP00000483516.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 670,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1100_1101delAG",
"hgvs_p": "p.Glu367fs",
"transcript": "ENST00000672026.1",
"protein_id": "ENSP00000500099.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 608,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1190_1191delAG",
"hgvs_p": "p.Glu397fs",
"transcript": "NM_001265610.1",
"protein_id": "NP_001252539.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 556,
"cds_start": 1190,
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"cdna_start": 1491,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1100_1101delAG",
"hgvs_p": "p.Glu367fs",
"transcript": "ENST00000484786.5",
"protein_id": "ENSP00000487488.1",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 526,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.566_567delAG",
"hgvs_p": "p.Glu189fs",
"transcript": "ENST00000427771.1",
"protein_id": "ENSP00000413729.1",
"transcript_support_level": 3,
"aa_start": 189,
"aa_end": null,
"aa_length": 299,
"cds_start": 566,
"cds_end": null,
"cds_length": 900,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
"hgvs_p": "p.Glu471fs",
"transcript": "XM_024453400.2",
"protein_id": "XP_024309168.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 999,
"cds_start": 1412,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1412_1413delAG",
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"inheritance_mode": "AD",
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"hgvs_p": "p.Glu471fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}