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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: 1-16997049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16997049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16997049,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000326735.13",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "NM_022089.4",
"protein_id": "NP_071372.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 1180,
"cds_start": 1166,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "ENST00000326735.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "ENST00000326735.13",
"protein_id": "ENSP00000327214.8",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 1180,
"cds_start": 1166,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "NM_022089.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "ENST00000452699.5",
"protein_id": "ENSP00000413307.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "ENST00000341676.9",
"protein_id": "ENSP00000341115.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "n.305C>T",
"hgvs_p": null,
"transcript": "ENST00000502860.1",
"protein_id": null,
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "NM_001141973.3",
"protein_id": "NP_001135445.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "NM_001141974.3",
"protein_id": "NP_001135446.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Pro109Leu",
"transcript": "ENST00000506174.5",
"protein_id": "ENSP00000424393.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 190,
"cds_start": 326,
"cds_end": null,
"cds_length": 573,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "XM_005245810.2",
"protein_id": "XP_005245867.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1163,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "XM_005245811.2",
"protein_id": "XP_005245868.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1197,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "XM_011541128.2",
"protein_id": "XP_011539430.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 1197,
"cds_start": 1166,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Pro383Leu",
"transcript": "XM_006710512.2",
"protein_id": "XP_006710575.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1148,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "XM_047416537.1",
"protein_id": "XP_047272493.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1163,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Pro380Leu",
"transcript": "XM_005245812.2",
"protein_id": "XP_005245869.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1193,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"transcript": "XM_047416538.1",
"protein_id": "XP_047272494.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Pro379Leu",
"transcript": "XM_047416539.1",
"protein_id": "XP_047272495.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1136,
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"cds_length": 3579,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Pro375Leu",
"transcript": "XM_006710513.2",
"protein_id": "XP_006710576.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1124,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Pro374Leu",
"transcript": "XM_047416542.1",
"protein_id": "XP_047272498.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1121,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "XM_047416544.1",
"protein_id": "XP_047272500.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1179,
"cds_start": 1163,
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"cds_length": 3540,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "XM_017000844.2",
"protein_id": "XP_016856333.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1166,
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"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Pro383Leu",
"transcript": "XM_017000845.2",
"protein_id": "XP_016856334.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1148,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "XM_047416546.1",
"protein_id": "XP_047272502.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1163,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}