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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: 5-68293187-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68293187&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68293187,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000521381.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 724,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 724,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Ile",
"transcript": "ENST00000336483.10",
"protein_id": "ENSP00000338554.5",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 454,
"cds_start": 296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.206C>T",
"hgvs_p": "p.Thr69Ile",
"transcript": "ENST00000320694.13",
"protein_id": "ENSP00000323512.8",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 424,
"cds_start": 206,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 732,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 369,
"aa_end": null,
"aa_length": 724,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 724,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 6641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 724,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Thr344Ile",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 699,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 6439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Ile",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 549,
"cds_start": 581,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Ile",
"transcript": "ENST00000697462.1",
"protein_id": "ENSP00000513320.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 462,
"cds_start": 296,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Ile",
"transcript": "NM_181504.4",
"protein_id": "NP_852556.2",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 454,
"cds_start": 296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Ile",
"transcript": "ENST00000522084.6",
"protein_id": "ENSP00000429766.2",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 454,
"cds_start": 296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.206C>T",
"hgvs_p": "p.Thr69Ile",
"transcript": "NM_181524.2",
"protein_id": "NP_852665.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 424,
"cds_start": 206,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Thr338Ile",
"transcript": "ENST00000697556.1",
"protein_id": "ENSP00000513334.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 405,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1220,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000697465.1",
"protein_id": "ENSP00000513323.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 403,
"cds_start": 143,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Thr38Ile",
"transcript": "ENST00000697466.1",
"protein_id": "ENSP00000513324.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 393,
"cds_start": 113,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Thr30Ile",
"transcript": "ENST00000697468.1",
"protein_id": "ENSP00000513326.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 385,
"cds_start": 89,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Thr30Ile",
"transcript": "ENST00000697557.1",
"protein_id": "ENSP00000513335.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 385,
"cds_start": 89,
"cds_end": null,
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"cdna_start": 130,
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"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Thr6Ile",
"transcript": "NM_001242466.2",
"protein_id": "NP_001229395.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 361,
"cds_start": 17,
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"cdna_start": 240,
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"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Thr6Ile",
"transcript": "ENST00000523872.1",
"protein_id": "ENSP00000430098.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 361,
"cds_start": 17,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Thr6Ile",
"transcript": "ENST00000697467.1",
"protein_id": "ENSP00000513325.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 361,
"cds_start": 17,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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