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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: 2-208320275-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208320275&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208320275,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000264380.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Pro702Pro",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2106,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Pro702Pro",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2106,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*1457C>A",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*1457C>A",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1938C>A",
"hgvs_p": "p.Pro646Pro",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 646,
"aa_end": null,
"aa_length": 1383,
"cds_start": 1938,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2142C>A",
"hgvs_p": "p.Pro714Pro",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 2110,
"cds_start": 2142,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2142C>A",
"hgvs_p": "p.Pro714Pro",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 2110,
"cds_start": 2142,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2139C>A",
"hgvs_p": "p.Pro713Pro",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 2109,
"cds_start": 2139,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 9941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2124C>A",
"hgvs_p": "p.Pro708Pro",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 2104,
"cds_start": 2124,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Pro702Pro",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2106,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.Pro696Pro",
"transcript": "XM_017003568.2",
"protein_id": "XP_016859057.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 2092,
"cds_start": 2088,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 9890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2142C>A",
"hgvs_p": "p.Pro714Pro",
"transcript": "XM_011510782.4",
"protein_id": "XP_011509084.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 2055,
"cds_start": 2142,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 9779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1974C>A",
"hgvs_p": "p.Pro658Pro",
"transcript": "XM_011510783.4",
"protein_id": "XP_011509085.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 2054,
"cds_start": 1974,
"cds_end": null,
"cds_length": 6165,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 9776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1971C>A",
"hgvs_p": "p.Pro657Pro",
"transcript": "XM_011510784.3",
"protein_id": "XP_011509086.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 2053,
"cds_start": 1971,
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"cds_length": 6162,
"cdna_start": 2141,
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"cdna_length": 9773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1956C>A",
"hgvs_p": "p.Pro652Pro",
"transcript": "XM_011510785.4",
"protein_id": "XP_011509087.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 2048,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 9758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Pro702Pro",
"transcript": "XM_047443670.1",
"protein_id": "XP_047299626.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
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"cds_start": 2106,
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"cdna_start": 2276,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1938C>A",
"hgvs_p": "p.Pro646Pro",
"transcript": "XM_047443671.1",
"protein_id": "XP_047299627.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 2042,
"cds_start": 1938,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 9740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1938C>A",
"hgvs_p": "p.Pro646Pro",
"transcript": "XM_047443672.1",
"protein_id": "XP_047299628.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 2042,
"cds_start": 1938,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 9797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.Pro696Pro",
"transcript": "XM_047443673.1",
"protein_id": "XP_047299629.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
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"cds_start": 2088,
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"cdna_start": 2258,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1920C>A",
"hgvs_p": "p.Pro640Pro",
"transcript": "XM_017003569.2",
"protein_id": "XP_016859058.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 2036,
"cds_start": 1920,
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"cds_length": 6111,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 9722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1851C>A",
"hgvs_p": "p.Pro617Pro",
"transcript": "XM_011510786.4",
"protein_id": "XP_011509088.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 2013,
"cds_start": 1851,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 9653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Pro616Pro",
"transcript": "XM_011510787.2",
"protein_id": "XP_011509089.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 2012,
"cds_start": 1848,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 9650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
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