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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: 2-223777862-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=223777862&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 223777862,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001039569.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"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": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "NM_001039569.2",
"protein_id": "NP_001034658.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 154,
"cds_start": 11,
"cds_end": null,
"cds_length": 465,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": "ENST00000396654.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039569.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"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": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000396654.7",
"protein_id": "ENSP00000379891.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 154,
"cds_start": 11,
"cds_end": null,
"cds_length": 465,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": "NM_001039569.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396654.7"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000443700.5",
"protein_id": "ENSP00000397155.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 164,
"cds_start": 11,
"cds_end": null,
"cds_length": 495,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443700.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000446015.6",
"protein_id": "ENSP00000388738.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 154,
"cds_start": 11,
"cds_end": null,
"cds_length": 465,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446015.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000415298.5",
"protein_id": "ENSP00000401705.1",
"transcript_support_level": 1,
"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": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415298.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286239",
"gene_hgnc_id": null,
"hgvs_c": "n.*975T>G",
"hgvs_p": null,
"transcript": "ENST00000650969.1",
"protein_id": "ENSP00000498456.1",
"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": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286239",
"gene_hgnc_id": null,
"hgvs_c": "n.*975T>G",
"hgvs_p": null,
"transcript": "ENST00000650969.1",
"protein_id": "ENSP00000498456.1",
"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": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.-195T>G",
"hgvs_p": null,
"transcript": "ENST00000444408.1",
"protein_id": "ENSP00000399738.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444408.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000699387.1",
"protein_id": "ENSP00000514351.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 137,
"cds_start": 11,
"cds_end": null,
"cds_length": 414,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699387.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000903914.1",
"protein_id": "ENSP00000573973.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 108,
"cds_start": 11,
"cds_end": null,
"cds_length": 327,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903914.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "ENST00000396653.2",
"protein_id": "ENSP00000379890.2",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 63,
"cds_start": 11,
"cds_end": null,
"cds_length": 192,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396653.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys",
"transcript": "XM_011510600.4",
"protein_id": "XP_011508902.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 108,
"cds_start": 11,
"cds_end": null,
"cds_length": 327,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510600.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "c.-195T>G",
"hgvs_p": null,
"transcript": "ENST00000444408.1",
"protein_id": "ENSP00000399738.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000334271.7",
"protein_id": "ENSP00000333888.3",
"transcript_support_level": 2,
"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": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000334271.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.102T>G",
"hgvs_p": null,
"transcript": "ENST00000409375.2",
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409375.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.58T>G",
"hgvs_p": null,
"transcript": "ENST00000699384.1",
"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": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000699384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000699385.1",
"protein_id": "ENSP00000514349.1",
"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": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000699386.1",
"protein_id": "ENSP00000514350.1",
"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": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000699389.1",
"protein_id": "ENSP00000514352.1",
"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": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.5T>G",
"hgvs_p": null,
"transcript": "ENST00000699390.1",
"protein_id": "ENSP00000514353.1",
"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": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.11T>G",
"hgvs_p": null,
"transcript": "ENST00000699391.1",
"protein_id": "ENSP00000514354.1",
"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": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.148T>G",
"hgvs_p": null,
"transcript": "ENST00000699393.1",
"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": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.143T>G",
"hgvs_p": null,
"transcript": "NR_110905.2",
"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": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110905.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.143T>G",
"hgvs_p": null,
"transcript": "NR_110906.2",
"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": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110906.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"hgvs_c": "n.-53T>G",
"hgvs_p": null,
"transcript": "ENST00000699392.1",
"protein_id": "ENSP00000514355.1",
"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": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699392.1"
}
],
"gene_symbol": "AP1S3",
"gene_hgnc_id": 18971,
"dbsnp": "rs116107386",
"frequency_reference_population": 0.01084934,
"hom_count_reference_population": 127,
"allele_count_reference_population": 17504,
"gnomad_exomes_af": 0.0110796,
"gnomad_genomes_af": 0.0086405,
"gnomad_exomes_ac": 16188,
"gnomad_genomes_ac": 1316,
"gnomad_exomes_homalt": 114,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027574151754379272,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.619,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.925,
"phylop100way_prediction": "Pathogenic",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001039569.2",
"gene_symbol": "AP1S3",
"hgnc_id": 18971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.11T>G",
"hgvs_p": "p.Phe4Cys"
},
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650969.1",
"gene_symbol": "ENSG00000286239",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*975T>G",
"hgvs_p": null
}
],
"clinvar_disease": " pustular, susceptibility to,AP1S3-related disorder,Psoriasis 15,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Psoriasis 15, pustular, susceptibility to|not provided|AP1S3-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}