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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: 5-68296259-GAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68296259&ref=GAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68296259,
"ref": "GAA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_181523.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181523.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521381.6"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1096_1097delAA",
"hgvs_p": "p.Asn366fs",
"transcript": "ENST00000336483.10",
"protein_id": "ENSP00000338554.5",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 454,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336483.10"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1006_1007delAA",
"hgvs_p": "p.Asn336fs",
"transcript": "ENST00000320694.13",
"protein_id": "ENSP00000323512.8",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 424,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320694.13"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1930_1931delAA",
"hgvs_p": "p.Asn644fs",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 732,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697461.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1930_1931delAA",
"hgvs_p": "p.Asn644fs",
"transcript": "ENST00000870050.1",
"protein_id": "ENSP00000540109.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 732,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870050.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517643.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521657.6"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697458.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000870051.1",
"protein_id": "ENSP00000540110.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870051.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000870052.1",
"protein_id": "ENSP00000540111.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870052.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000870053.1",
"protein_id": "ENSP00000540112.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870053.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1906_1907delAA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000961623.1",
"protein_id": "ENSP00000631682.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 724,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961623.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1849_1850delAA",
"hgvs_p": "p.Asn617fs",
"transcript": "ENST00000870049.1",
"protein_id": "ENSP00000540108.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 705,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870049.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1831_1832delAA",
"hgvs_p": "p.Asn611fs",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697457.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1381_1382delAA",
"hgvs_p": "p.Asn461fs",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 549,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697460.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1120_1121delAA",
"hgvs_p": "p.Asn374fs",
"transcript": "ENST00000697462.1",
"protein_id": "ENSP00000513320.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 462,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697462.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1096_1097delAA",
"hgvs_p": "p.Asn366fs",
"transcript": "NM_181504.4",
"protein_id": "NP_852556.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 454,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181504.4"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1096_1097delAA",
"hgvs_p": "p.Asn366fs",
"transcript": "ENST00000522084.6",
"protein_id": "ENSP00000429766.2",
"transcript_support_level": 3,
"aa_start": 366,
"aa_end": null,
"aa_length": 454,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522084.6"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1006_1007delAA",
"hgvs_p": "p.Asn336fs",
"transcript": "NM_181524.2",
"protein_id": "NP_852665.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 424,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181524.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.943_944delAA",
"hgvs_p": "p.Asn315fs",
"transcript": "ENST00000697465.1",
"protein_id": "ENSP00000513323.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 403,
"cds_start": 943,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697465.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.913_914delAA",
"hgvs_p": "p.Asn305fs",
"transcript": "ENST00000697466.1",
"protein_id": "ENSP00000513324.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
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}
],
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}