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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: 4-107950250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=107950250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 107950250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_183075.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488Trp",
"transcript": "NM_183075.3",
"protein_id": "NP_898898.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 544,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332884.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183075.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488Trp",
"transcript": "ENST00000332884.11",
"protein_id": "ENSP00000333212.6",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 544,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_183075.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332884.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "ENST00000508453.1",
"protein_id": "ENSP00000423667.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 835,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508453.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Trp",
"transcript": "ENST00000908818.1",
"protein_id": "ENSP00000578877.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 414,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908818.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Trp",
"transcript": "ENST00000917361.1",
"protein_id": "ENSP00000587420.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 350,
"cds_start": 880,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917361.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "ENST00000908819.1",
"protein_id": "ENSP00000578878.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 332,
"cds_start": 826,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908819.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"transcript": "ENST00000908820.1",
"protein_id": "ENSP00000578879.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 278,
"cds_start": 664,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Trp",
"transcript": "XM_005262717.2",
"protein_id": "XP_005262774.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 562,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262717.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_005262720.2",
"protein_id": "XP_005262777.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 332,
"cds_start": 826,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262720.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.263+28470G>A",
"hgvs_p": null,
"transcript": "ENST00000513071.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513071.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.80+28470G>A",
"hgvs_p": null,
"transcript": "ENST00000656249.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.194+39318G>A",
"hgvs_p": null,
"transcript": "ENST00000658105.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658105.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.129-28240G>A",
"hgvs_p": null,
"transcript": "ENST00000686573.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686573.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.131+39318G>A",
"hgvs_p": null,
"transcript": "ENST00000687236.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.132-28240G>A",
"hgvs_p": null,
"transcript": "ENST00000702404.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702404.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.126-28240G>A",
"hgvs_p": null,
"transcript": "ENST00000781789.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.125+39318G>A",
"hgvs_p": null,
"transcript": "ENST00000781790.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.126-28240G>A",
"hgvs_p": null,
"transcript": "ENST00000781791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.126-28240G>A",
"hgvs_p": null,
"transcript": "ENST00000781792.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.158-12859G>A",
"hgvs_p": null,
"transcript": "ENST00000781793.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.126-12859G>A",
"hgvs_p": null,
"transcript": "ENST00000781794.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP2U1-AS1",
"gene_hgnc_id": 54817,
"hgvs_c": "n.108+38862G>A",
"hgvs_p": null,
"transcript": "ENST00000781795.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "CYP2U1-AS1",
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"transcript": "ENST00000781946.1",
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"biotype": "pseudogene",
"feature": "ENST00000781946.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC107986298",
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"hgvs_c": "n.204+28470G>A",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "CYP2U1-AS1",
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"hgvs_c": "n.*125G>A",
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"biotype": "pseudogene",
"feature": "ENST00000781797.1"
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],
"gene_symbol": "CYP2U1",
"gene_hgnc_id": 20582,
"dbsnp": "rs141431913",
"frequency_reference_population": 0.00007398351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 118,
"gnomad_exomes_af": 0.000077612,
"gnomad_genomes_af": 0.0000395064,
"gnomad_exomes_ac": 112,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9627587795257568,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9388,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.057,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_183075.3",
"gene_symbol": "CYP2U1",
"hgnc_id": 20582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488Trp"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000513071.2",
"gene_symbol": "CYP2U1-AS1",
"hgnc_id": 54817,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.263+28470G>A",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_001741784.2",
"gene_symbol": "LOC107986298",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.204+28470G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 56,Spastic paraplegia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "Hereditary spastic paraplegia 56|Spastic paraplegia|Hereditary spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}