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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: 12-119710363-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119710363&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119710363,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392521.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4959A>C",
"hgvs_p": "p.Glu1653Asp",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 2069,
"cds_start": 4959,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4959A>C",
"hgvs_p": "p.Glu1653Asp",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 1653,
"aa_end": null,
"aa_length": 2069,
"cds_start": 4959,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4833A>C",
"hgvs_p": "p.Glu1611Asp",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2027,
"cds_start": 4833,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 4886,
"cdna_end": null,
"cdna_length": 8578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4833A>C",
"hgvs_p": "p.Glu1611Asp",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2027,
"cds_start": 4833,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 4918,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3669A>C",
"hgvs_p": "p.Glu1223Asp",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1639,
"cds_start": 3669,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 3671,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3576A>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1617,
"cds_start": 3576,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 3904,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3576A>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3576,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3576A>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3576,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3564A>C",
"hgvs_p": "p.Glu1188Asp",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3564,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3450A>C",
"hgvs_p": "p.Glu1150Asp",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3450,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4004,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3363A>C",
"hgvs_p": "p.Glu1121Asp",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3363,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5004A>C",
"hgvs_p": "p.Glu1668Asp",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 8781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5004A>C",
"hgvs_p": "p.Glu1668Asp",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2083,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6252,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 8778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4959A>C",
"hgvs_p": "p.Glu1653Asp",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 2069,
"cds_start": 4959,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4959A>C",
"hgvs_p": "p.Glu1653Asp",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 2068,
"cds_start": 4959,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 8733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4959A>C",
"hgvs_p": "p.Glu1653Asp",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 2068,
"cds_start": 4959,
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"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 8733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4914A>C",
"hgvs_p": "p.Glu1638Asp",
"transcript": "XM_006719206.3",
"protein_id": "XP_006719269.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2054,
"cds_start": 4914,
"cds_end": null,
"cds_length": 6165,
"cdna_start": 4999,
"cdna_end": null,
"cdna_length": 8691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4914A>C",
"hgvs_p": "p.Glu1638Asp",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2053,
"cds_start": 4914,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 4999,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4833A>C",
"hgvs_p": "p.Glu1611Asp",
"transcript": "XM_047428134.1",
"protein_id": "XP_047284090.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2026,
"cds_start": 4833,
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"cds_length": 6081,
"cdna_start": 4918,
"cdna_end": null,
"cdna_length": 8607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4788A>C",
"hgvs_p": "p.Glu1596Asp",
"transcript": "XM_011537787.2",
"protein_id": "XP_011536089.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 2012,
"cds_start": 4788,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 4873,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4788A>C",
"hgvs_p": "p.Glu1596Asp",
"transcript": "XM_011537788.2",
"protein_id": "XP_011536090.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 2011,
"cds_start": 4788,
"cds_end": null,
"cds_length": 6036,
"cdna_start": 4873,
"cdna_end": null,
"cdna_length": 8562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3666A>C",
"hgvs_p": "p.Glu1222Asp",
"transcript": "XM_011537789.2",
"protein_id": "XP_011536091.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1638,
"cds_start": 3666,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 4235,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.3666A>C",
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}