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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: 1-227016972-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=227016972&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 227016972,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366766.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Arg1565His",
"transcript": "NM_001394014.1",
"protein_id": "NP_001380943.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4694,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 6004,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "ENST00000366766.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Arg1565His",
"transcript": "ENST00000366766.8",
"protein_id": "ENSP00000355728.5",
"transcript_support_level": 5,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4694,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 6004,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "NM_001394014.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4589G>A",
"hgvs_p": "p.Arg1530His",
"transcript": "ENST00000366769.7",
"protein_id": "ENSP00000355731.3",
"transcript_support_level": 1,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1719,
"cds_start": 4589,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5881,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510His",
"transcript": "ENST00000366764.8",
"protein_id": "ENSP00000355726.5",
"transcript_support_level": 1,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4529,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4556,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4346G>A",
"hgvs_p": "p.Arg1449His",
"transcript": "ENST00000366767.7",
"protein_id": "ENSP00000355729.3",
"transcript_support_level": 1,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4346,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 9320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2573G>A",
"hgvs_p": "p.Arg858His",
"transcript": "ENST00000442054.5",
"protein_id": "ENSP00000401051.1",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2195G>A",
"hgvs_p": "p.Arg732His",
"transcript": "ENST00000448940.5",
"protein_id": "ENSP00000415388.1",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 983,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 7355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4781G>A",
"hgvs_p": "p.Arg1594His",
"transcript": "NM_001387550.1",
"protein_id": "NP_001374479.1",
"transcript_support_level": null,
"aa_start": 1594,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4781,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 6091,
"cdna_end": null,
"cdna_length": 11251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4628G>A",
"hgvs_p": "p.Arg1543His",
"transcript": "NM_001366019.2",
"protein_id": "NP_001352948.1",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4628,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5938,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4628G>A",
"hgvs_p": "p.Arg1543His",
"transcript": "ENST00000334218.9",
"protein_id": "ENSP00000335341.6",
"transcript_support_level": 5,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4628,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 10134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4589G>A",
"hgvs_p": "p.Arg1530His",
"transcript": "NM_003607.4",
"protein_id": "NP_003598.2",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1719,
"cds_start": 4589,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5899,
"cdna_end": null,
"cdna_length": 10873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510His",
"transcript": "NM_001366011.1",
"protein_id": "NP_001352940.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4529,
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"cds_length": 5100,
"cdna_start": 5839,
"cdna_end": null,
"cdna_length": 10820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4505G>A",
"hgvs_p": "p.Arg1502His",
"transcript": "NM_001366010.2",
"protein_id": "NP_001352939.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4505,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 5815,
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"cdna_length": 10789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4346G>A",
"hgvs_p": "p.Arg1449His",
"transcript": "NM_014826.5",
"protein_id": "NP_055641.3",
"transcript_support_level": null,
"aa_start": 1449,
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"cds_start": 4346,
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"cdna_start": 5656,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "ENST00000429440.5",
"protein_id": "ENSP00000407120.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4742G>A",
"hgvs_p": "p.Arg1581His",
"transcript": "XM_005273317.5",
"protein_id": "XP_005273374.1",
"transcript_support_level": null,
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"cds_start": 4742,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4733G>A",
"hgvs_p": "p.Arg1578His",
"transcript": "XM_005273318.5",
"protein_id": "XP_005273375.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4733,
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"cds_length": 5490,
"cdna_start": 6043,
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"cdna_length": 11203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Arg1565His",
"transcript": "XM_006711834.5",
"protein_id": "XP_006711897.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4694,
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"cdna_start": 6004,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4676G>A",
"hgvs_p": "p.Arg1559His",
"transcript": "XM_011544307.4",
"protein_id": "XP_011542609.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4637G>A",
"hgvs_p": "p.Arg1546His",
"transcript": "XM_006711835.5",
"protein_id": "XP_006711898.1",
"transcript_support_level": null,
"aa_start": 1546,
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"feature": null
},
{
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"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4628G>A",
"hgvs_p": "p.Arg1543His",
"transcript": "XM_005273320.5",
"protein_id": "XP_005273377.1",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1794,
"cds_start": 4628,
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"cds_length": 5385,
"cdna_start": 5938,
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"cdna_length": 11098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4781G>A",
"hgvs_p": "p.Arg1594His",
"transcript": "XM_011544308.4",
"protein_id": "XP_011542610.1",
"transcript_support_level": null,
"aa_start": 1594,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4781,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 6091,
"cdna_end": null,
"cdna_length": 11065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
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],
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}