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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: 21-32639778-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32639778&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32639778,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000674351.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Thr1197Met",
"transcript": "NM_203446.3",
"protein_id": "NP_982271.3",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "ENST00000674351.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Thr1197Met",
"transcript": "ENST00000674351.1",
"protein_id": "ENSP00000501530.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "NM_203446.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3707C>T",
"hgvs_p": "p.Thr1236Met",
"transcript": "ENST00000433931.7",
"protein_id": "ENSP00000409667.2",
"transcript_support_level": 1,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Thr1150Met",
"transcript": "ENST00000630077.3",
"protein_id": "ENSP00000487560.1",
"transcript_support_level": 1,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3707C>T",
"hgvs_p": "p.Thr1236Met",
"transcript": "ENST00000382499.7",
"protein_id": "ENSP00000371939.2",
"transcript_support_level": 1,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3707C>T",
"hgvs_p": "p.Thr1236Met",
"transcript": "NM_003895.4",
"protein_id": "NP_003886.3",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 4061,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Thr1197Met",
"transcript": "ENST00000674308.1",
"protein_id": "ENSP00000501426.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3590,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 7044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Thr1150Met",
"transcript": "NM_001160306.2",
"protein_id": "NP_001153778.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Thr1197Met",
"transcript": "ENST00000674204.1",
"protein_id": "ENSP00000501504.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3697,
"cdna_end": null,
"cdna_length": 7085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3542C>T",
"hgvs_p": "p.Thr1181Met",
"transcript": "NM_001160302.2",
"protein_id": "NP_001153774.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3649,
"cdna_end": null,
"cdna_length": 7037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3542C>T",
"hgvs_p": "p.Thr1181Met",
"transcript": "ENST00000357345.7",
"protein_id": "ENSP00000349903.3",
"transcript_support_level": 5,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Thr1150Met",
"transcript": "ENST00000382491.7",
"protein_id": "ENSP00000371931.4",
"transcript_support_level": 5,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Met",
"transcript": "ENST00000438952.5",
"protein_id": "ENSP00000388869.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 186,
"cds_start": 215,
"cds_end": null,
"cds_length": 561,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Thr17Met",
"transcript": "ENST00000418301.3",
"protein_id": "ENSP00000387868.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 130,
"cds_start": 50,
"cds_end": null,
"cds_length": 393,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3692C>T",
"hgvs_p": "p.Thr1231Met",
"transcript": "XM_017028495.3",
"protein_id": "XP_016883984.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3692,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 3692,
"cdna_end": null,
"cdna_length": 7060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3668C>T",
"hgvs_p": "p.Thr1223Met",
"transcript": "XM_047441034.1",
"protein_id": "XP_047296990.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1599,
"cds_start": 3668,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3659C>T",
"hgvs_p": "p.Thr1220Met",
"transcript": "XM_017028497.3",
"protein_id": "XP_016883986.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1596,
"cds_start": 3659,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3629C>T",
"hgvs_p": "p.Thr1210Met",
"transcript": "XM_047441035.1",
"protein_id": "XP_047296991.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1586,
"cds_start": 3629,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 6997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3605C>T",
"hgvs_p": "p.Thr1202Met",
"transcript": "XM_047441036.1",
"protein_id": "XP_047296992.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3605,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Thr1197Met",
"transcript": "XM_047441037.1",
"protein_id": "XP_047296993.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3590,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3566C>T",
"hgvs_p": "p.Thr1189Met",
"transcript": "XM_017028499.3",
"protein_id": "XP_016883988.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1565,
"cds_start": 3566,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3557C>T",
"hgvs_p": "p.Thr1186Met",
"transcript": "XM_047441038.1",
"protein_id": "XP_047296994.1",
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}
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}