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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: 2-208326358-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208326358&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208326358,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264380.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3547C>A",
"hgvs_p": "p.Gln1183Lys",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3547,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3547C>A",
"hgvs_p": "p.Gln1183Lys",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3547,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3379C>A",
"hgvs_p": "p.Gln1127Lys",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1383,
"cds_start": 3379,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3583C>A",
"hgvs_p": "p.Gln1195Lys",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3583,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3583C>A",
"hgvs_p": "p.Gln1195Lys",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3583,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3810,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3580C>A",
"hgvs_p": "p.Gln1194Lys",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 2109,
"cds_start": 3580,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 9941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3565C>A",
"hgvs_p": "p.Gln1189Lys",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 2104,
"cds_start": 3565,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3547C>A",
"hgvs_p": "p.Gln1183Lys",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3547,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3529C>A",
"hgvs_p": "p.Gln1177Lys",
"transcript": "XM_017003568.2",
"protein_id": "XP_016859057.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 2092,
"cds_start": 3529,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 9890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3583C>A",
"hgvs_p": "p.Gln1195Lys",
"transcript": "XM_011510782.4",
"protein_id": "XP_011509084.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 2055,
"cds_start": 3583,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 9779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3415C>A",
"hgvs_p": "p.Gln1139Lys",
"transcript": "XM_011510783.4",
"protein_id": "XP_011509085.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 2054,
"cds_start": 3415,
"cds_end": null,
"cds_length": 6165,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 9776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3412C>A",
"hgvs_p": "p.Gln1138Lys",
"transcript": "XM_011510784.3",
"protein_id": "XP_011509086.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 2053,
"cds_start": 3412,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 9773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Gln1133Lys",
"transcript": "XM_011510785.4",
"protein_id": "XP_011509087.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 2048,
"cds_start": 3397,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 9758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3547C>A",
"hgvs_p": "p.Gln1183Lys",
"transcript": "XM_047443670.1",
"protein_id": "XP_047299626.1",
"transcript_support_level": null,
"aa_start": 1183,
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"cds_start": 3547,
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"cdna_start": 3717,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3379C>A",
"hgvs_p": "p.Gln1127Lys",
"transcript": "XM_047443671.1",
"protein_id": "XP_047299627.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 2042,
"cds_start": 3379,
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"cdna_start": 3549,
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"cdna_length": 9740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3379C>A",
"hgvs_p": "p.Gln1127Lys",
"transcript": "XM_047443672.1",
"protein_id": "XP_047299628.1",
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"cds_start": 3379,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3529C>A",
"hgvs_p": "p.Gln1177Lys",
"transcript": "XM_047443673.1",
"protein_id": "XP_047299629.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3529,
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"cdna_start": 3699,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3361C>A",
"hgvs_p": "p.Gln1121Lys",
"transcript": "XM_017003569.2",
"protein_id": "XP_016859058.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 2036,
"cds_start": 3361,
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"cdna_start": 3531,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3292C>A",
"hgvs_p": "p.Gln1098Lys",
"transcript": "XM_011510786.4",
"protein_id": "XP_011509088.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 3292,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3289C>A",
"hgvs_p": "p.Gln1097Lys",
"transcript": "XM_011510787.2",
"protein_id": "XP_011509089.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
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"cdna_start": 3459,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3256C>A",
"hgvs_p": "p.Gln1086Lys",
"transcript": "XM_011510788.2",
"protein_id": "XP_011509090.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3256,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 9617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3256C>A",
"hgvs_p": "p.Gln1086Lys",
"transcript": "XM_047443674.1",
"protein_id": "XP_047299630.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3256,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 9674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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