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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: 1-16986526-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16986526&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16986526,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000326735.13",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3342C>T",
"hgvs_p": "p.Thr1114Thr",
"transcript": "NM_022089.4",
"protein_id": "NP_071372.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "ENST00000326735.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3342C>T",
"hgvs_p": "p.Thr1114Thr",
"transcript": "ENST00000326735.13",
"protein_id": "ENSP00000327214.8",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "NM_022089.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3327C>T",
"hgvs_p": "p.Thr1109Thr",
"transcript": "ENST00000452699.5",
"protein_id": "ENSP00000413307.1",
"transcript_support_level": 1,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3517,
"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.3104-168C>T",
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3327C>T",
"hgvs_p": "p.Thr1109Thr",
"transcript": "NM_001141973.3",
"protein_id": "NP_001135445.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3339C>T",
"hgvs_p": "p.Thr1113Thr",
"transcript": "XM_047416544.1",
"protein_id": "XP_047272500.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3339,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3327C>T",
"hgvs_p": "p.Thr1109Thr",
"transcript": "XM_017000844.2",
"protein_id": "XP_016856333.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3324C>T",
"hgvs_p": "p.Thr1108Thr",
"transcript": "XM_017000845.2",
"protein_id": "XP_016856334.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3324,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3514,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3324C>T",
"hgvs_p": "p.Thr1108Thr",
"transcript": "XM_047416546.1",
"protein_id": "XP_047272502.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3324,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3514,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3315C>T",
"hgvs_p": "p.Thr1105Thr",
"transcript": "XM_047416547.1",
"protein_id": "XP_047272503.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3312C>T",
"hgvs_p": "p.Thr1104Thr",
"transcript": "XM_047416548.1",
"protein_id": "XP_047272504.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3312C>T",
"hgvs_p": "p.Thr1104Thr",
"transcript": "XM_047416549.1",
"protein_id": "XP_047272505.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3309C>T",
"hgvs_p": "p.Thr1103Thr",
"transcript": "XM_047416550.1",
"protein_id": "XP_047272506.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3309,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3300C>T",
"hgvs_p": "p.Thr1100Thr",
"transcript": "XM_017000846.2",
"protein_id": "XP_016856335.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3300,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3300C>T",
"hgvs_p": "p.Thr1100Thr",
"transcript": "XM_047416551.1",
"protein_id": "XP_047272507.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3300,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3297C>T",
"hgvs_p": "p.Thr1099Thr",
"transcript": "XM_017000847.2",
"protein_id": "XP_016856336.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3297,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3297C>T",
"hgvs_p": "p.Thr1099Thr",
"transcript": "XM_047416553.1",
"protein_id": "XP_047272509.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3297,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3285C>T",
"hgvs_p": "p.Thr1095Thr",
"transcript": "XM_047416556.1",
"protein_id": "XP_047272512.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3225C>T",
"hgvs_p": "p.Thr1075Thr",
"transcript": "XM_017000848.2",
"protein_id": "XP_016856337.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3415,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3222C>T",
"hgvs_p": "p.Thr1074Thr",
"transcript": "XM_047416560.1",
"protein_id": "XP_047272516.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3412,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3210C>T",
"hgvs_p": "p.Thr1070Thr",
"transcript": "XM_017000849.2",
"protein_id": "XP_016856338.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3210,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3210C>T",
"hgvs_p": "p.Thr1070Thr",
"transcript": "XM_047416562.1",
"protein_id": "XP_047272518.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3210,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"exon_count": 27,
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"gene_symbol": "ATP13A2",
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"hgvs_c": "c.3029-168C>T",
"hgvs_p": null,
"transcript": "XM_011541129.2",
"protein_id": "XP_011539431.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": -4,
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"cds_length": 3402,
"cdna_start": null,
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},
{
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],
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"gene_symbol": "ATP13A2",
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"transcript": "XM_047416564.1",
"protein_id": "XP_047272520.1",
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"cds_length": 3399,
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"exon_count": 27,
"intron_rank": 26,
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"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"hgvs_c": "c.3002-168C>T",
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"transcript": "XM_047416566.1",
"protein_id": "XP_047272522.1",
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 3592,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP13A2",
"gene_hgnc_id": 30213,
"dbsnp": "rs115985012",
"frequency_reference_population": 0.0033863054,
"hom_count_reference_population": 20,
"allele_count_reference_population": 5461,
"gnomad_exomes_af": 0.00350857,
"gnomad_genomes_af": 0.00221352,
"gnomad_exomes_ac": 5124,
"gnomad_genomes_ac": 337,
"gnomad_exomes_homalt": 20,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.8,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000326735.13",
"gene_symbol": "ATP13A2",
"hgnc_id": 30213,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3342C>T",
"hgvs_p": "p.Thr1114Thr"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000446261.1",
"gene_symbol": "ENSG00000226526",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187+7414G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive spastic paraplegia type 78,Inborn genetic diseases,Kufor-Rakeb syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:1",
"phenotype_combined": "Kufor-Rakeb syndrome|not provided|Kufor-Rakeb syndrome;Autosomal recessive spastic paraplegia type 78|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}