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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: 21-32639730-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32639730&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32639730,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003895.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3638G>A",
"hgvs_p": "p.Arg1213Gln",
"transcript": "NM_203446.3",
"protein_id": "NP_982271.3",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674351.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203446.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3638G>A",
"hgvs_p": "p.Arg1213Gln",
"transcript": "ENST00000674351.1",
"protein_id": "ENSP00000501530.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203446.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674351.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "ENST00000630077.3",
"protein_id": "ENSP00000487560.1",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630077.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3755G>A",
"hgvs_p": "p.Arg1252Gln",
"transcript": "NM_003895.4",
"protein_id": "NP_003886.3",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3755,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003895.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3638G>A",
"hgvs_p": "p.Arg1213Gln",
"transcript": "ENST00000674308.1",
"protein_id": "ENSP00000501426.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674308.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "NM_001160306.2",
"protein_id": "NP_001153778.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160306.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3638G>A",
"hgvs_p": "p.Arg1213Gln",
"transcript": "ENST00000674204.1",
"protein_id": "ENSP00000501504.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674204.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3590G>A",
"hgvs_p": "p.Arg1197Gln",
"transcript": "NM_001160302.2",
"protein_id": "NP_001153774.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160302.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3590G>A",
"hgvs_p": "p.Arg1197Gln",
"transcript": "ENST00000357345.8",
"protein_id": "ENSP00000349903.3",
"transcript_support_level": 5,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357345.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3551G>A",
"hgvs_p": "p.Arg1184Gln",
"transcript": "ENST00000902244.1",
"protein_id": "ENSP00000572303.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902244.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3551G>A",
"hgvs_p": "p.Arg1184Gln",
"transcript": "ENST00000963072.1",
"protein_id": "ENSP00000633131.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963072.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "ENST00000382491.7",
"protein_id": "ENSP00000371931.4",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382491.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3488G>A",
"hgvs_p": "p.Arg1163Gln",
"transcript": "ENST00000902245.1",
"protein_id": "ENSP00000572304.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902245.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.263G>A",
"hgvs_p": "p.Arg88Gln",
"transcript": "ENST00000438952.5",
"protein_id": "ENSP00000388869.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 186,
"cds_start": 263,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438952.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.98G>A",
"hgvs_p": "p.Arg33Gln",
"transcript": "ENST00000418301.3",
"protein_id": "ENSP00000387868.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 130,
"cds_start": 98,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418301.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3740G>A",
"hgvs_p": "p.Arg1247Gln",
"transcript": "XM_017028495.3",
"protein_id": "XP_016883984.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3740,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028495.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3716G>A",
"hgvs_p": "p.Arg1239Gln",
"transcript": "XM_047441034.1",
"protein_id": "XP_047296990.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1599,
"cds_start": 3716,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441034.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3707G>A",
"hgvs_p": "p.Arg1236Gln",
"transcript": "XM_017028497.3",
"protein_id": "XP_016883986.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1596,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028497.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3677G>A",
"hgvs_p": "p.Arg1226Gln",
"transcript": "XM_047441035.1",
"protein_id": "XP_047296991.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1586,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441035.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3653G>A",
"hgvs_p": "p.Arg1218Gln",
"transcript": "XM_047441036.1",
"protein_id": "XP_047296992.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441036.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3638G>A",
"hgvs_p": "p.Arg1213Gln",
"transcript": "XM_047441037.1",
"protein_id": "XP_047296993.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441037.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3614G>A",
"hgvs_p": "p.Arg1205Gln",
"transcript": "XM_017028499.3",
"protein_id": "XP_016883988.1",
"transcript_support_level": null,
"aa_start": 1205,
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}
],
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}