← Back to variant description
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: 12-42459880-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42459880&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42459880,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153026.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "NM_153026.3",
"protein_id": "NP_694571.2",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000345127.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153026.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000345127.9",
"protein_id": "ENSP00000345064.3",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_153026.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345127.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257225",
"gene_hgnc_id": 58444,
"hgvs_c": "n.515G>T",
"hgvs_p": null,
"transcript": "ENST00000547824.1",
"protein_id": null,
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000547824.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "NM_001144881.2",
"protein_id": "NP_001138353.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144881.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "NM_001144882.2",
"protein_id": "NP_001138354.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144882.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "NM_001144883.2",
"protein_id": "NP_001138355.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144883.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000445766.7",
"protein_id": "ENSP00000398947.2",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445766.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000455697.6",
"protein_id": "ENSP00000401060.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455697.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000548696.6",
"protein_id": "ENSP00000448359.1",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548696.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000552240.6",
"protein_id": "ENSP00000449819.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552240.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000639566.1",
"protein_id": "ENSP00000492332.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639566.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000639589.1",
"protein_id": "ENSP00000491051.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639589.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000639958.1",
"protein_id": "ENSP00000492644.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639958.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000640055.1",
"protein_id": "ENSP00000492763.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640055.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000640132.1",
"protein_id": "ENSP00000491228.1",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640132.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899955.1",
"protein_id": "ENSP00000570014.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 3044,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899955.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899957.1",
"protein_id": "ENSP00000570016.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899957.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899959.1",
"protein_id": "ENSP00000570018.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899959.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899960.1",
"protein_id": "ENSP00000570019.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899960.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899961.1",
"protein_id": "ENSP00000570020.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899961.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899962.1",
"protein_id": "ENSP00000570021.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899962.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000899963.1",
"protein_id": "ENSP00000570022.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899963.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000914366.1",
"protein_id": "ENSP00000584425.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914366.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000914369.1",
"protein_id": "ENSP00000584428.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914369.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000914372.1",
"protein_id": "ENSP00000584431.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914372.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000945641.1",
"protein_id": "ENSP00000615700.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945641.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "ENST00000945644.1",
"protein_id": "ENSP00000615703.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945644.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Gln764Lys",
"transcript": "ENST00000899956.1",
"protein_id": "ENSP00000570015.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 786,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899956.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Gln764Lys",
"transcript": "ENST00000914367.1",
"protein_id": "ENSP00000584426.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 786,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914367.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Gln764Lys",
"transcript": "ENST00000914368.1",
"protein_id": "ENSP00000584427.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 786,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914368.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Gln764Lys",
"transcript": "ENST00000914370.1",
"protein_id": "ENSP00000584429.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 786,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914370.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Gln764Lys",
"transcript": "ENST00000945643.1",
"protein_id": "ENSP00000615702.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 786,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945643.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2221C>A",
"hgvs_p": "p.Gln741Lys",
"transcript": "ENST00000899958.1",
"protein_id": "ENSP00000570017.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 763,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899958.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2221C>A",
"hgvs_p": "p.Gln741Lys",
"transcript": "ENST00000914371.1",
"protein_id": "ENSP00000584430.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 763,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914371.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2221C>A",
"hgvs_p": "p.Gln741Lys",
"transcript": "ENST00000945642.1",
"protein_id": "ENSP00000615701.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 763,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945642.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Gln454Lys",
"transcript": "ENST00000945645.1",
"protein_id": "ENSP00000615704.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 476,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945645.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_011537946.2",
"protein_id": "XP_011536248.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537946.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_011537947.3",
"protein_id": "XP_011536249.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537947.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_017018838.2",
"protein_id": "XP_016874327.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018838.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_017018839.2",
"protein_id": "XP_016874328.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018839.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_017018840.2",
"protein_id": "XP_016874329.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 5808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018840.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428327.1",
"protein_id": "XP_047284283.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 5386,
"cdna_end": null,
"cdna_length": 8509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428327.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428328.1",
"protein_id": "XP_047284284.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428328.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428329.1",
"protein_id": "XP_047284285.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428329.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428330.1",
"protein_id": "XP_047284286.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2611,
"cdna_end": null,
"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428330.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428332.1",
"protein_id": "XP_047284288.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428332.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428333.1",
"protein_id": "XP_047284289.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428333.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428334.1",
"protein_id": "XP_047284290.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428334.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys",
"transcript": "XM_047428335.1",
"protein_id": "XP_047284291.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 831,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 5390,
"cdna_end": null,
"cdna_length": 8513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "n.2252C>A",
"hgvs_p": null,
"transcript": "ENST00000640840.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000640840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.*514G>T",
"hgvs_p": null,
"transcript": "ENST00000317560.13",
"protein_id": "ENSP00000322048.9",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317560.13"
}
],
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"dbsnp": "rs142613488",
"frequency_reference_population": 6.8406285e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84063e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13341104984283447,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.1039,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.558,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153026.3",
"gene_symbol": "PRICKLE1",
"hgnc_id": 17019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Gln809Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000547824.1",
"gene_symbol": "ENSG00000257225",
"hgnc_id": 58444,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.515G>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000317560.13",
"gene_symbol": "PPHLN1",
"hgnc_id": 19369,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*514G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}