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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: 5-132389012-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132389012&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132389012,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001308122.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "NM_003060.4",
"protein_id": "NP_003051.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 557,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": "ENST00000245407.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003060.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "ENST00000245407.8",
"protein_id": "ENSP00000245407.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 557,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": "NM_003060.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245407.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Ile372Thr",
"transcript": "ENST00000435065.7",
"protein_id": "ENSP00000402760.2",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 581,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435065.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.1043T>C",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448810.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1229T>C",
"hgvs_p": "p.Ile410Thr",
"transcript": "ENST00000893301.1",
"protein_id": "ENSP00000563360.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 619,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893301.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Ile372Thr",
"transcript": "NM_001308122.2",
"protein_id": "NP_001295051.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 581,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308122.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Ile366Thr",
"transcript": "ENST00000893299.1",
"protein_id": "ENSP00000563358.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 575,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893299.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Ile364Thr",
"transcript": "ENST00000693308.1",
"protein_id": "ENSP00000509770.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 573,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693308.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Ile363Thr",
"transcript": "ENST00000893300.1",
"protein_id": "ENSP00000563359.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 572,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893300.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1067T>C",
"hgvs_p": "p.Ile356Thr",
"transcript": "ENST00000893302.1",
"protein_id": "ENSP00000563361.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 565,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893302.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1067T>C",
"hgvs_p": "p.Ile356Thr",
"transcript": "ENST00000953171.1",
"protein_id": "ENSP00000623230.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 565,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953171.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000938827.1",
"protein_id": "ENSP00000608886.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 556,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938827.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Ile342Thr",
"transcript": "ENST00000692413.1",
"protein_id": "ENSP00000509374.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 551,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692413.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "ENST00000893296.1",
"protein_id": "ENSP00000563355.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 541,
"cds_start": 995,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893296.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "ENST00000893297.1",
"protein_id": "ENSP00000563356.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 530,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893297.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.956T>C",
"hgvs_p": "p.Ile319Thr",
"transcript": "ENST00000953172.1",
"protein_id": "ENSP00000623231.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 528,
"cds_start": 956,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953172.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Ile312Thr",
"transcript": "ENST00000938829.1",
"protein_id": "ENSP00000608888.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 521,
"cds_start": 935,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938829.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Ile297Thr",
"transcript": "ENST00000689271.1",
"protein_id": "ENSP00000510797.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 506,
"cds_start": 890,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689271.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Ile295Thr",
"transcript": "ENST00000893298.1",
"protein_id": "ENSP00000563357.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 504,
"cds_start": 884,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893298.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "ENST00000938828.1",
"protein_id": "ENSP00000608887.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 496,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938828.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Ile295Thr",
"transcript": "ENST00000415928.6",
"protein_id": "ENSP00000388838.2",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 431,
"cds_start": 884,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415928.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Ile172Thr",
"transcript": "XM_017009778.3",
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}
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}