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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: 21-32646501-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32646501&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32646501,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000674351.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "NM_203446.3",
"protein_id": "NP_982271.3",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "ENST00000674351.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "ENST00000674351.1",
"protein_id": "ENSP00000501530.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "NM_203446.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Arg1086Gly",
"transcript": "ENST00000433931.7",
"protein_id": "ENSP00000409667.2",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3256,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Arg1042Gly",
"transcript": "ENST00000630077.3",
"protein_id": "ENSP00000487560.1",
"transcript_support_level": 1,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3124,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Arg1086Gly",
"transcript": "ENST00000382499.7",
"protein_id": "ENSP00000371939.2",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3256,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Arg1086Gly",
"transcript": "NM_003895.4",
"protein_id": "NP_003886.3",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3256,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "ENST00000674308.1",
"protein_id": "ENSP00000501426.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3139,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 7044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Arg1042Gly",
"transcript": "NM_001160306.2",
"protein_id": "NP_001153778.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3124,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "ENST00000674204.1",
"protein_id": "ENSP00000501504.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 7085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "NM_001160302.2",
"protein_id": "NP_001153774.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 7037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3139C>G",
"hgvs_p": "p.Arg1047Gly",
"transcript": "ENST00000357345.7",
"protein_id": "ENSP00000349903.3",
"transcript_support_level": 5,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Arg1042Gly",
"transcript": "ENST00000382491.7",
"protein_id": "ENSP00000371931.4",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Arg1081Gly",
"transcript": "XM_017028495.3",
"protein_id": "XP_016883984.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3241,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 7060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3265C>G",
"hgvs_p": "p.Arg1089Gly",
"transcript": "XM_047441034.1",
"protein_id": "XP_047296990.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1599,
"cds_start": 3265,
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"cds_length": 4800,
"cdna_start": 3265,
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"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Arg1086Gly",
"transcript": "XM_017028497.3",
"protein_id": "XP_016883986.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1596,
"cds_start": 3256,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3265C>G",
"hgvs_p": "p.Arg1089Gly",
"transcript": "XM_047441035.1",
"protein_id": "XP_047296991.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1586,
"cds_start": 3265,
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"cdna_start": 3265,
"cdna_end": null,
"cdna_length": 6997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Arg1081Gly",
"transcript": "XM_047441036.1",
"protein_id": "XP_047296992.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3241,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3265C>G",
"hgvs_p": "p.Arg1089Gly",
"transcript": "XM_047441037.1",
"protein_id": "XP_047296993.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3265,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 3265,
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"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Arg1081Gly",
"transcript": "XM_017028499.3",
"protein_id": "XP_016883988.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1565,
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"cdna_start": 3241,
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"cdna_length": 6934,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3232C>G",
"hgvs_p": "p.Arg1078Gly",
"transcript": "XM_047441038.1",
"protein_id": "XP_047296994.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1562,
"cds_start": 3232,
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"cdna_start": 3232,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Arg1042Gly",
"transcript": "XM_047441039.1",
"protein_id": "XP_047296995.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3124,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3148C>G",
"hgvs_p": "p.Arg1050Gly",
"transcript": "XM_047441040.1",
"protein_id": "XP_047296996.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3148,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
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}
],
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}