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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: 12-25090181-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25090181&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25090181,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000556887.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366544.2",
"protein_id": "NP_001353473.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "ENST00000556887.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "ENST00000556887.6",
"protein_id": "ENSP00000451048.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "NM_001366544.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "ENST00000354454.7",
"protein_id": "ENSP00000346442.3",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "ENST00000547044.5",
"protein_id": "ENSP00000450246.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "ENST00000557489.6",
"protein_id": "ENSP00000452116.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.590G>C",
"hgvs_p": null,
"transcript": "ENST00000361433.6",
"protein_id": "ENSP00000354805.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3455G>C",
"hgvs_p": "p.Cys1152Ser",
"transcript": "ENST00000636465.1",
"protein_id": "ENSP00000489956.1",
"transcript_support_level": 5,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3455,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3431G>C",
"hgvs_p": "p.Cys1144Ser",
"transcript": "NM_001394803.1",
"protein_id": "NP_001381732.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3431,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3509,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001204126.2",
"protein_id": "NP_001191055.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001204127.2",
"protein_id": "NP_001191056.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366540.1",
"protein_id": "NP_001353469.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366541.2",
"protein_id": "NP_001353470.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366542.2",
"protein_id": "NP_001353471.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366543.2",
"protein_id": "NP_001353472.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366545.2",
"protein_id": "NP_001353474.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366546.2",
"protein_id": "NP_001353475.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366547.2",
"protein_id": "NP_001353476.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_006152.4",
"protein_id": "NP_006143.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "ENST00000548766.5",
"protein_id": "ENSP00000446496.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 499,
"cds_start": 590,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Cys197Ser",
"transcript": "NM_001366548.2",
"protein_id": "NP_001353477.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 487,
"cds_start": 590,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Cys144Ser",
"transcript": "NM_001366549.2",
"protein_id": "NP_001353478.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 446,
"cds_start": 431,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Cys144Ser",
"transcript": "ENST00000536173.5",
"protein_id": "ENSP00000444056.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 446,
"cds_start": 431,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Cys47Ser",
"transcript": "ENST00000555885.1",
"protein_id": "ENSP00000450767.1",
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{
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}
],
"message": null
}