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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: 1-16986614-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16986614&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16986614,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000326735.13",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3253delC",
"hgvs_p": "p.Leu1085fs",
"transcript": "NM_022089.4",
"protein_id": "NP_071372.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3443,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "ENST00000326735.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3253delC",
"hgvs_p": "p.Leu1085fs",
"transcript": "ENST00000326735.13",
"protein_id": "ENSP00000327214.8",
"transcript_support_level": 1,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3443,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "NM_022089.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3238delC",
"hgvs_p": "p.Leu1080fs",
"transcript": "ENST00000452699.5",
"protein_id": "ENSP00000413307.1",
"transcript_support_level": 1,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3103+190delC",
"hgvs_p": null,
"transcript": "ENST00000341676.9",
"protein_id": "ENSP00000341115.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3238delC",
"hgvs_p": "p.Leu1080fs",
"transcript": "NM_001141973.3",
"protein_id": "NP_001135445.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3250delC",
"hgvs_p": "p.Leu1084fs",
"transcript": "XM_047416544.1",
"protein_id": "XP_047272500.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3238delC",
"hgvs_p": "p.Leu1080fs",
"transcript": "XM_017000844.2",
"protein_id": "XP_016856333.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3235delC",
"hgvs_p": "p.Leu1079fs",
"transcript": "XM_017000845.2",
"protein_id": "XP_016856334.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3235delC",
"hgvs_p": "p.Leu1079fs",
"transcript": "XM_047416546.1",
"protein_id": "XP_047272502.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3226delC",
"hgvs_p": "p.Leu1076fs",
"transcript": "XM_047416547.1",
"protein_id": "XP_047272503.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3223delC",
"hgvs_p": "p.Leu1075fs",
"transcript": "XM_047416548.1",
"protein_id": "XP_047272504.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3223delC",
"hgvs_p": "p.Leu1075fs",
"transcript": "XM_047416549.1",
"protein_id": "XP_047272505.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3220delC",
"hgvs_p": "p.Leu1074fs",
"transcript": "XM_047416550.1",
"protein_id": "XP_047272506.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3211delC",
"hgvs_p": "p.Leu1071fs",
"transcript": "XM_017000846.2",
"protein_id": "XP_016856335.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3211delC",
"hgvs_p": "p.Leu1071fs",
"transcript": "XM_047416551.1",
"protein_id": "XP_047272507.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3208delC",
"hgvs_p": "p.Leu1070fs",
"transcript": "XM_017000847.2",
"protein_id": "XP_016856336.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3208delC",
"hgvs_p": "p.Leu1070fs",
"transcript": "XM_047416553.1",
"protein_id": "XP_047272509.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3196delC",
"hgvs_p": "p.Leu1066fs",
"transcript": "XM_047416556.1",
"protein_id": "XP_047272512.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3136delC",
"hgvs_p": "p.Leu1046fs",
"transcript": "XM_017000848.2",
"protein_id": "XP_016856337.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3136,
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"cds_length": 3426,
"cdna_start": 3326,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3133delC",
"hgvs_p": "p.Leu1045fs",
"transcript": "XM_047416560.1",
"protein_id": "XP_047272516.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3323,
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"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3121delC",
"hgvs_p": "p.Leu1041fs",
"transcript": "XM_017000849.2",
"protein_id": "XP_016856338.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 3311,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3121delC",
"hgvs_p": "p.Leu1041fs",
"transcript": "XM_047416562.1",
"protein_id": "XP_047272518.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 3311,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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{
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},
{
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}
],
"gene_symbol": "ATP13A2",
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"computational_source_selected": null,
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 3.856,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2"
],
"verdict": "Pathogenic",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446261.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187+7505delG",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}