← 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: 22-50440025-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50440025&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50440025,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000612753.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "NM_001242898.2",
"protein_id": "NP_001229827.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 959,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "ENST00000612753.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000612753.5",
"protein_id": "ENSP00000478417.1",
"transcript_support_level": 2,
"aa_start": 784,
"aa_end": null,
"aa_length": 959,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "NM_001242898.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000216061.9",
"protein_id": "ENSP00000216061.5",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "ENST00000395741.7",
"protein_id": "ENSP00000379090.3",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 933,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Trp",
"transcript": "ENST00000395744.7",
"protein_id": "ENSP00000379093.3",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 932,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "NM_001365836.1",
"protein_id": "NP_001352765.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "NM_001351641.2",
"protein_id": "NP_001338570.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "NM_001351642.2",
"protein_id": "NP_001338571.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "NM_001351643.2",
"protein_id": "NP_001338572.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 959,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_001242899.2",
"protein_id": "NP_001229828.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 933,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_001351644.2",
"protein_id": "NP_001338573.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 933,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Trp",
"transcript": "NM_001351645.2",
"protein_id": "NP_001338574.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 932,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Trp",
"transcript": "NM_014678.5",
"protein_id": "NP_055493.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 932,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2266C>T",
"hgvs_p": "p.Arg756Trp",
"transcript": "NM_001351646.2",
"protein_id": "NP_001338575.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 931,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_001242900.2",
"protein_id": "NP_001229829.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 927,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "ENST00000359139.7",
"protein_id": "ENSP00000352051.3",
"transcript_support_level": 2,
"aa_start": 758,
"aa_end": null,
"aa_length": 927,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622Trp",
"transcript": "NM_001351647.2",
"protein_id": "NP_001338576.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 797,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Trp",
"transcript": "NM_001351648.2",
"protein_id": "NP_001338577.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 770,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Trp",
"transcript": "ENST00000401672.7",
"protein_id": "ENSP00000384532.3",
"transcript_support_level": 2,
"aa_start": 509,
"aa_end": null,
"aa_length": 684,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386Trp",
"transcript": "ENST00000427222.2",
"protein_id": "ENSP00000391595.2",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 561,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Arg847Trp",
"transcript": "XM_047441645.1",
"protein_id": "XP_047297601.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 4559,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Trp",
"transcript": "XM_011530732.3",
"protein_id": "XP_011529034.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 990,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Trp",
"transcript": "XM_011530734.3",
"protein_id": "XP_011529036.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 990,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Trp",
"transcript": "XM_047441638.1",
"protein_id": "XP_047297594.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 990,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_011530720.3",
"protein_id": "XP_011529022.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 989,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_011530721.3",
"protein_id": "XP_011529023.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 989,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441642.1",
"protein_id": "XP_047297598.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 989,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441643.1",
"protein_id": "XP_047297599.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 989,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_011530722.3",
"protein_id": "XP_011529024.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 988,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441644.1",
"protein_id": "XP_047297600.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 988,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Trp",
"transcript": "XM_011530723.3",
"protein_id": "XP_011529025.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 983,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_011530724.3",
"protein_id": "XP_011529026.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_024452306.2",
"protein_id": "XP_024308074.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441646.1",
"protein_id": "XP_047297602.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441647.1",
"protein_id": "XP_047297603.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441648.1",
"protein_id": "XP_047297604.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441649.1",
"protein_id": "XP_047297605.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"transcript": "XM_047441650.1",
"protein_id": "XP_047297606.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 982,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_017029120.2",
"protein_id": "XP_016884609.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441639.1",
"protein_id": "XP_047297595.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441651.1",
"protein_id": "XP_047297607.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441652.1",
"protein_id": "XP_047297608.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441653.1",
"protein_id": "XP_047297609.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Trp",
"transcript": "XM_047441654.1",
"protein_id": "XP_047297610.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 981,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Trp",
"transcript": "XM_047441640.1",
"protein_id": "XP_047297596.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 975,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Arg786Trp",
"transcript": "XM_011530736.4",
"protein_id": "XP_011529038.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 968,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Arg786Trp",
"transcript": "XM_011530737.3",
"protein_id": "XP_011529039.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 968,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Arg786Trp",
"transcript": "XM_011530739.3",
"protein_id": "XP_011529041.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 968,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "XM_006724431.4",
"protein_id": "XP_006724494.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 967,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2341C>T",
"hgvs_p": "p.Arg781Trp",
"transcript": "XM_011530726.3",
"protein_id": "XP_011529028.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 963,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_011530727.3",
"protein_id": "XP_011529029.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 962,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_047441641.1",
"protein_id": "XP_047297597.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 962,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_017029116.2",
"protein_id": "XP_016884605.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 961,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_047441655.1",
"protein_id": "XP_047297611.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 961,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2341C>T",
"hgvs_p": "p.Arg781Trp",
"transcript": "XM_011530728.3",
"protein_id": "XP_011529030.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 956,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_011530729.3",
"protein_id": "XP_011529031.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 955,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_011530730.3",
"protein_id": "XP_011529032.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 955,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_047441656.1",
"protein_id": "XP_047297612.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 955,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_047441657.1",
"protein_id": "XP_047297613.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 955,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_011530731.2",
"protein_id": "XP_011529033.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 954,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_047441658.1",
"protein_id": "XP_047297614.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 954,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_047441659.1",
"protein_id": "XP_047297615.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 954,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_047441660.1",
"protein_id": "XP_047297616.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 954,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
"transcript": "XM_047441661.1",
"protein_id": "XP_047297617.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 954,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2152C>T",
"hgvs_p": "p.Arg718Trp",
"transcript": "XM_011530740.3",
"protein_id": "XP_011529042.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 900,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624Trp",
"transcript": "XM_017029133.2",
"protein_id": "XP_016884622.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 806,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530Trp",
"transcript": "XM_047441662.1",
"protein_id": "XP_047297618.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 705,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"transcript": "XM_047441663.1",
"protein_id": "XP_047297619.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 691,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "n.273C>T",
"hgvs_p": null,
"transcript": "ENST00000473283.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"dbsnp": "rs193920858",
"frequency_reference_population": 0.00015435256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 249,
"gnomad_exomes_af": 0.000158801,
"gnomad_genomes_af": 0.000111661,
"gnomad_exomes_ac": 232,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11384421586990356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.133,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000612753.5",
"gene_symbol": "PPP6R2",
"hgnc_id": 19253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}