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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: 2-208335328-GAAGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208335328&ref=GAAGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208335328,
"ref": "GAAGT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000264380.9",
"consequences": [
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4167_4170delAGTA",
"hgvs_p": "p.Glu1389fs",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4167,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 4337,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4167_4170delAGTA",
"hgvs_p": "p.Glu1389fs",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4167,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 4337,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3999_4002delAGTA",
"hgvs_p": "p.Glu1333fs",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1383,
"cds_start": 3999,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4061,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4203_4206delAGTA",
"hgvs_p": "p.Glu1401fs",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 2110,
"cds_start": 4203,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4203_4206delAGTA",
"hgvs_p": "p.Glu1401fs",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 2110,
"cds_start": 4203,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4200_4203delAGTA",
"hgvs_p": "p.Glu1400fs",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 2109,
"cds_start": 4200,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 4370,
"cdna_end": null,
"cdna_length": 9941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4185_4188delAGTA",
"hgvs_p": "p.Glu1395fs",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 2104,
"cds_start": 4185,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 4355,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4167_4170delAGTA",
"hgvs_p": "p.Glu1389fs",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4167,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 4394,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4149_4152delAGTA",
"hgvs_p": "p.Glu1383fs",
"transcript": "XM_017003568.2",
"protein_id": "XP_016859057.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2092,
"cds_start": 4149,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 4319,
"cdna_end": null,
"cdna_length": 9890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4203_4206delAGTA",
"hgvs_p": "p.Glu1401fs",
"transcript": "XM_011510782.4",
"protein_id": "XP_011509084.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 2055,
"cds_start": 4203,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 9779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4035_4038delAGTA",
"hgvs_p": "p.Glu1345fs",
"transcript": "XM_011510783.4",
"protein_id": "XP_011509085.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 2054,
"cds_start": 4035,
"cds_end": null,
"cds_length": 6165,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 9776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4032_4035delAGTA",
"hgvs_p": "p.Glu1344fs",
"transcript": "XM_011510784.3",
"protein_id": "XP_011509086.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 2053,
"cds_start": 4032,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 4202,
"cdna_end": null,
"cdna_length": 9773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4017_4020delAGTA",
"hgvs_p": "p.Glu1339fs",
"transcript": "XM_011510785.4",
"protein_id": "XP_011509087.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 2048,
"cds_start": 4017,
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"cdna_start": 4187,
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"cdna_length": 9758,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4167_4170delAGTA",
"hgvs_p": "p.Glu1389fs",
"transcript": "XM_047443670.1",
"protein_id": "XP_047299626.1",
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"cdna_start": 4337,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3999_4002delAGTA",
"hgvs_p": "p.Glu1333fs",
"transcript": "XM_047443671.1",
"protein_id": "XP_047299627.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 2042,
"cds_start": 3999,
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"cdna_start": 4169,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3999_4002delAGTA",
"hgvs_p": "p.Glu1333fs",
"transcript": "XM_047443672.1",
"protein_id": "XP_047299628.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4149_4152delAGTA",
"hgvs_p": "p.Glu1383fs",
"transcript": "XM_047443673.1",
"protein_id": "XP_047299629.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4149,
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"cdna_start": 4319,
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"cdna_length": 9725,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3981_3984delAGTA",
"hgvs_p": "p.Glu1327fs",
"transcript": "XM_017003569.2",
"protein_id": "XP_016859058.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 2036,
"cds_start": 3981,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3912_3915delAGTA",
"hgvs_p": "p.Glu1304fs",
"transcript": "XM_011510786.4",
"protein_id": "XP_011509088.1",
"transcript_support_level": null,
"aa_start": 1304,
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"cdna_start": 4082,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3909_3912delAGTA",
"hgvs_p": "p.Glu1303fs",
"transcript": "XM_011510787.2",
"protein_id": "XP_011509089.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 2012,
"cds_start": 3909,
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"cdna_start": 4079,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3876_3879delAGTA",
"hgvs_p": "p.Glu1292fs",
"transcript": "XM_011510788.2",
"protein_id": "XP_011509090.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3876,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 9617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3876_3879delAGTA",
"hgvs_p": "p.Glu1292fs",
"transcript": "XM_047443674.1",
"protein_id": "XP_047299630.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3876,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 4103,
"cdna_end": null,
"cdna_length": 9674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
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