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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: 5-68294575-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68294575&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68294575,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000521381.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 724,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 724,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "ENST00000336483.10",
"protein_id": "ENSP00000338554.5",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 454,
"cds_start": 655,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000320694.13",
"protein_id": "ENSP00000323512.8",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 424,
"cds_start": 565,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 732,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 489,
"aa_end": null,
"aa_length": 724,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 724,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 6641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 724,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Glu464Lys",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 699,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 6439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Glu314Lys",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 549,
"cds_start": 940,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "ENST00000697462.1",
"protein_id": "ENSP00000513320.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 462,
"cds_start": 655,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_181504.4",
"protein_id": "NP_852556.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 454,
"cds_start": 655,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "ENST00000522084.6",
"protein_id": "ENSP00000429766.2",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 454,
"cds_start": 655,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "NM_181524.2",
"protein_id": "NP_852665.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 424,
"cds_start": 565,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000697465.1",
"protein_id": "ENSP00000513323.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 403,
"cds_start": 502,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000697466.1",
"protein_id": "ENSP00000513324.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 393,
"cds_start": 472,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000697468.1",
"protein_id": "ENSP00000513326.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 385,
"cds_start": 448,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000697557.1",
"protein_id": "ENSP00000513335.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 385,
"cds_start": 448,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"transcript": "NM_001242466.2",
"protein_id": "NP_001229395.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 361,
"cds_start": 376,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"transcript": "ENST00000523872.1",
"protein_id": "ENSP00000430098.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 361,
"cds_start": 376,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"transcript": "ENST00000697467.1",
"protein_id": "ENSP00000513325.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 361,
"cds_start": 376,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000697470.1",
"protein_id": "ENSP00000513328.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 235,
"cds_start": 61,
"cds_end": null,
"cds_length": 708,
"cdna_start": 61,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
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}
],
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}