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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: 5-68295271-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68295271&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68295271,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000521381.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 724,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 724,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Asn294Asn",
"transcript": "ENST00000336483.10",
"protein_id": "ENSP00000338554.5",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 454,
"cds_start": 882,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.792C>T",
"hgvs_p": "p.Asn264Asn",
"transcript": "ENST00000320694.13",
"protein_id": "ENSP00000323512.8",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 424,
"cds_start": 792,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 732,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 564,
"aa_end": null,
"aa_length": 724,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 724,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Asn564Asn",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 724,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1617C>T",
"hgvs_p": "p.Asn539Asn",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 699,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 6439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1167C>T",
"hgvs_p": "p.Asn389Asn",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 549,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Asn294Asn",
"transcript": "ENST00000697462.1",
"protein_id": "ENSP00000513320.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 462,
"cds_start": 882,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Asn294Asn",
"transcript": "NM_181504.4",
"protein_id": "NP_852556.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 454,
"cds_start": 882,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Asn294Asn",
"transcript": "ENST00000522084.6",
"protein_id": "ENSP00000429766.2",
"transcript_support_level": 3,
"aa_start": 294,
"aa_end": null,
"aa_length": 454,
"cds_start": 882,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.792C>T",
"hgvs_p": "p.Asn264Asn",
"transcript": "NM_181524.2",
"protein_id": "NP_852665.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 424,
"cds_start": 792,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.729C>T",
"hgvs_p": "p.Asn243Asn",
"transcript": "ENST00000697465.1",
"protein_id": "ENSP00000513323.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 403,
"cds_start": 729,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Asn233Asn",
"transcript": "ENST00000697466.1",
"protein_id": "ENSP00000513324.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 393,
"cds_start": 699,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Asn225Asn",
"transcript": "ENST00000697468.1",
"protein_id": "ENSP00000513326.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 385,
"cds_start": 675,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Asn225Asn",
"transcript": "ENST00000697557.1",
"protein_id": "ENSP00000513335.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 385,
"cds_start": 675,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asn201Asn",
"transcript": "NM_001242466.2",
"protein_id": "NP_001229395.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 361,
"cds_start": 603,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asn201Asn",
"transcript": "ENST00000523872.1",
"protein_id": "ENSP00000430098.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 361,
"cds_start": 603,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asn201Asn",
"transcript": "ENST00000697467.1",
"protein_id": "ENSP00000513325.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 361,
"cds_start": 603,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.288C>T",
"hgvs_p": "p.Asn96Asn",
"transcript": "ENST00000697470.1",
"protein_id": "ENSP00000513328.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 235,
"cds_start": 288,
"cds_end": null,
"cds_length": 708,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
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}
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}