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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: 2-70212840-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70212840&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70212840,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022173.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1040C>A",
"hgvs_p": "p.Thr347Lys",
"transcript": "NM_022173.4",
"protein_id": "NP_071505.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 386,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "ENST00000433529.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022173.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1040C>A",
"hgvs_p": "p.Thr347Lys",
"transcript": "ENST00000433529.7",
"protein_id": "ENSP00000401371.2",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 386,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "NM_022173.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433529.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1007C>A",
"hgvs_p": "p.Thr336Lys",
"transcript": "ENST00000415783.6",
"protein_id": "ENSP00000404023.2",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 375,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415783.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "ENST00000881363.1",
"protein_id": "ENSP00000551422.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 418,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881363.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1103C>A",
"hgvs_p": "p.Thr368Lys",
"transcript": "ENST00000881360.1",
"protein_id": "ENSP00000551419.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 407,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881360.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1046C>A",
"hgvs_p": "p.Thr349Lys",
"transcript": "ENST00000881359.1",
"protein_id": "ENSP00000551418.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 388,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881359.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1043C>A",
"hgvs_p": "p.Thr348Lys",
"transcript": "ENST00000881364.1",
"protein_id": "ENSP00000551423.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 387,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881364.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Thr346Lys",
"transcript": "NM_001351508.2",
"protein_id": "NP_001338437.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 385,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351508.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Thr346Lys",
"transcript": "ENST00000282574.8",
"protein_id": "ENSP00000282574.4",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 385,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282574.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1028C>A",
"hgvs_p": "p.Thr343Lys",
"transcript": "ENST00000881362.1",
"protein_id": "ENSP00000551421.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 382,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881362.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1013C>A",
"hgvs_p": "p.Thr338Lys",
"transcript": "NM_001351509.2",
"protein_id": "NP_001338438.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 377,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351509.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1013C>A",
"hgvs_p": "p.Thr338Lys",
"transcript": "ENST00000881361.1",
"protein_id": "ENSP00000551420.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 377,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881361.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1007C>A",
"hgvs_p": "p.Thr336Lys",
"transcript": "NM_022037.4",
"protein_id": "NP_071320.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 375,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022037.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Thr335Lys",
"transcript": "NM_001351510.2",
"protein_id": "NP_001338439.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 374,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351510.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Thr335Lys",
"transcript": "ENST00000881358.1",
"protein_id": "ENSP00000551417.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 374,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881358.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Thr310Lys",
"transcript": "NM_001351511.1",
"protein_id": "NP_001338440.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 349,
"cds_start": 929,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351511.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.902C>A",
"hgvs_p": "p.Thr301Lys",
"transcript": "NM_001351512.1",
"protein_id": "NP_001338441.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 902,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351512.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Thr299Lys",
"transcript": "NM_001351513.1",
"protein_id": "NP_001338442.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 338,
"cds_start": 896,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351513.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.812C>A",
"hgvs_p": "p.Thr271Lys",
"transcript": "NM_001351514.2",
"protein_id": "NP_001338443.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 310,
"cds_start": 812,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351514.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Lys",
"transcript": "NM_001351515.2",
"protein_id": "NP_001338444.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351515.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Lys",
"transcript": "ENST00000445587.5",
"protein_id": "ENSP00000399567.1",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445587.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Thr230Lys",
"transcript": "ENST00000881365.1",
"protein_id": "ENSP00000551424.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 269,
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}
],
"message": null
}