← 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: 12-8937926-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8937926&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8937926,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004426.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "NM_004426.3",
"protein_id": "NP_004417.2",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544916.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004426.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000544916.6",
"protein_id": "ENSP00000437659.1",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004426.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544916.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000543824.5",
"protein_id": "ENSP00000440674.1",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543824.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2591G>T",
"hgvs_p": "p.Gly864Val",
"transcript": "ENST00000433083.6",
"protein_id": "ENSP00000399194.2",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 959,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433083.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "n.*1576G>T",
"hgvs_p": null,
"transcript": "ENST00000540574.5",
"protein_id": "ENSP00000444308.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540574.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "n.*1576G>T",
"hgvs_p": null,
"transcript": "ENST00000540574.5",
"protein_id": "ENSP00000444308.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540574.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2744G>T",
"hgvs_p": "p.Gly915Val",
"transcript": "ENST00000936637.1",
"protein_id": "ENSP00000606696.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936637.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "NM_001413738.1",
"protein_id": "NP_001400667.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413738.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000891310.1",
"protein_id": "ENSP00000561369.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891310.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936667.1",
"protein_id": "ENSP00000606726.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936667.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936668.1",
"protein_id": "ENSP00000606727.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936668.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936669.1",
"protein_id": "ENSP00000606728.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936669.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936671.1",
"protein_id": "ENSP00000606730.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936671.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936673.1",
"protein_id": "ENSP00000606732.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936673.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936675.1",
"protein_id": "ENSP00000606734.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936675.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val",
"transcript": "ENST00000936676.1",
"protein_id": "ENSP00000606735.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936676.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2720G>T",
"hgvs_p": "p.Gly907Val",
"transcript": "NM_001413739.1",
"protein_id": "NP_001400668.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413739.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2720G>T",
"hgvs_p": "p.Gly907Val",
"transcript": "ENST00000936645.1",
"protein_id": "ENSP00000606704.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936645.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2720G>T",
"hgvs_p": "p.Gly907Val",
"transcript": "ENST00000936646.1",
"protein_id": "ENSP00000606705.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936646.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2720G>T",
"hgvs_p": "p.Gly907Val",
"transcript": "ENST00000936649.1",
"protein_id": "ENSP00000606708.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936649.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2714G>T",
"hgvs_p": "p.Gly905Val",
"transcript": "ENST00000936663.1",
"protein_id": "ENSP00000606722.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2714,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936663.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Gly901Val",
"transcript": "NM_001413740.1",
"protein_id": "NP_001400669.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 996,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413740.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Gly901Val",
"transcript": "ENST00000891307.1",
"protein_id": "ENSP00000561366.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 996,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891307.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Gly901Val",
"transcript": "ENST00000936629.1",
"protein_id": "ENSP00000606688.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 996,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936629.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Gly901Val",
"transcript": "ENST00000936670.1",
"protein_id": "ENSP00000606729.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 996,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936670.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Gly901Val",
"transcript": "ENST00000936672.1",
"protein_id": "ENSP00000606731.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 996,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936672.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2699G>T",
"hgvs_p": "p.Gly900Val",
"transcript": "ENST00000936657.1",
"protein_id": "ENSP00000606716.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 995,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936657.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2639G>T",
"hgvs_p": "p.Gly880Val",
"transcript": "ENST00000936641.1",
"protein_id": "ENSP00000606700.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 975,
"cds_start": 2639,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936641.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2627G>T",
"hgvs_p": "p.Gly876Val",
"transcript": "ENST00000936631.1",
"protein_id": "ENSP00000606690.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 971,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936631.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2627G>T",
"hgvs_p": "p.Gly876Val",
"transcript": "ENST00000936650.1",
"protein_id": "ENSP00000606709.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 971,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936650.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2615G>T",
"hgvs_p": "p.Gly872Val",
"transcript": "NM_001413741.1",
"protein_id": "NP_001400670.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 967,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413741.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2615G>T",
"hgvs_p": "p.Gly872Val",
"transcript": "ENST00000936635.1",
"protein_id": "ENSP00000606694.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 967,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936635.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2615G>T",
"hgvs_p": "p.Gly872Val",
"transcript": "ENST00000936682.1",
"protein_id": "ENSP00000606741.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 967,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936682.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Gly868Val",
"transcript": "ENST00000936627.1",
"protein_id": "ENSP00000606686.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 963,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936627.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Gly868Val",
"transcript": "ENST00000936678.1",
"protein_id": "ENSP00000606737.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 963,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936678.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2600G>T",
"hgvs_p": "p.Gly867Val",
"transcript": "ENST00000936666.1",
"protein_id": "ENSP00000606725.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 962,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936666.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "ENST00000891308.1",
"protein_id": "ENSP00000561367.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891308.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "ENST00000936626.1",
"protein_id": "ENSP00000606685.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936626.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "ENST00000936677.1",
"protein_id": "ENSP00000606736.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936677.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "ENST00000936679.1",
"protein_id": "ENSP00000606738.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936679.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "ENST00000936683.1",
"protein_id": "ENSP00000606742.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936683.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Gly857Val",
"transcript": "NM_001413742.1",
"protein_id": "NP_001400671.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 952,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413742.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Gly857Val",
"transcript": "NM_001413743.1",
"protein_id": "NP_001400672.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 952,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413743.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Gly857Val",
"transcript": "ENST00000936628.1",
"protein_id": "ENSP00000606687.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 952,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936628.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Gly857Val",
"transcript": "ENST00000936630.1",
"protein_id": "ENSP00000606689.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 952,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936630.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Gly857Val",
"transcript": "ENST00000936636.1",
"protein_id": "ENSP00000606695.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 952,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936636.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2564G>T",
"hgvs_p": "p.Gly855Val",
"transcript": "ENST00000936648.1",
"protein_id": "ENSP00000606707.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 950,
"cds_start": 2564,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936648.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Gly853Val",
"transcript": "ENST00000936664.1",
"protein_id": "ENSP00000606723.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 948,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936664.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2495G>T",
"hgvs_p": "p.Gly832Val",
"transcript": "ENST00000936656.1",
"protein_id": "ENSP00000606715.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 927,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936656.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2489G>T",
"hgvs_p": "p.Gly830Val",
"transcript": "ENST00000936661.1",
"protein_id": "ENSP00000606720.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 925,
"cds_start": 2489,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936661.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Gly828Val",
"transcript": "ENST00000936651.1",
"protein_id": "ENSP00000606710.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 923,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936651.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "ENST00000936654.1",
"protein_id": "ENSP00000606713.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 919,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936654.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2465G>T",
"hgvs_p": "p.Gly822Val",
"transcript": "ENST00000936640.1",
"protein_id": "ENSP00000606699.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 917,
"cds_start": 2465,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936640.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2459G>T",
"hgvs_p": "p.Gly820Val",
"transcript": "ENST00000936680.1",
"protein_id": "ENSP00000606739.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 915,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936680.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Gly807Val",
"transcript": "ENST00000936632.1",
"protein_id": "ENSP00000606691.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 902,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936632.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Gly807Val",
"transcript": "ENST00000936638.1",
"protein_id": "ENSP00000606697.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 902,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936638.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2351G>T",
"hgvs_p": "p.Gly784Val",
"transcript": "NM_001413744.1",
"protein_id": "NP_001400673.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 879,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413744.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Gly780Val",
"transcript": "ENST00000936639.1",
"protein_id": "ENSP00000606698.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 875,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936639.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2309G>T",
"hgvs_p": "p.Gly770Val",
"transcript": "ENST00000936643.1",
"protein_id": "ENSP00000606702.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 865,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936643.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Gly768Val",
"transcript": "NM_001413745.1",
"protein_id": "NP_001400674.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 863,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413745.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Gly762Val",
"transcript": "NM_001413746.1",
"protein_id": "NP_001400675.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 857,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413746.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Gly750Val",
"transcript": "ENST00000936681.1",
"protein_id": "ENSP00000606740.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 845,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936681.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2222G>T",
"hgvs_p": "p.Gly741Val",
"transcript": "ENST00000936665.1",
"protein_id": "ENSP00000606724.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 836,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936665.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2207G>T",
"hgvs_p": "p.Gly736Val",
"transcript": "NM_001413747.1",
"protein_id": "NP_001400676.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 831,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413747.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2207G>T",
"hgvs_p": "p.Gly736Val",
"transcript": "ENST00000891306.1",
"protein_id": "ENSP00000561365.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 831,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891306.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2189G>T",
"hgvs_p": "p.Gly730Val",
"transcript": "NM_001413748.1",
"protein_id": "NP_001400677.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 825,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413748.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2189G>T",
"hgvs_p": "p.Gly730Val",
"transcript": "NM_001413749.1",
"protein_id": "NP_001400678.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 825,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413749.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2189G>T",
"hgvs_p": "p.Gly730Val",
"transcript": "ENST00000936634.1",
"protein_id": "ENSP00000606693.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 825,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936634.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2183G>T",
"hgvs_p": "p.Gly728Val",
"transcript": "NM_001413750.1",
"protein_id": "NP_001400679.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 823,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413750.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2183G>T",
"hgvs_p": "p.Gly728Val",
"transcript": "ENST00000936659.1",
"protein_id": "ENSP00000606718.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 823,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936659.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "NM_001413751.1",
"protein_id": "NP_001400680.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 817,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413751.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "NM_001413752.1",
"protein_id": "NP_001400681.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 817,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413752.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "ENST00000891309.1",
"protein_id": "ENSP00000561368.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 817,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891309.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "ENST00000936674.1",
"protein_id": "ENSP00000606733.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 817,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936674.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2057G>T",
"hgvs_p": "p.Gly686Val",
"transcript": "NM_001413753.1",
"protein_id": "NP_001400682.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 781,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413753.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2057G>T",
"hgvs_p": "p.Gly686Val",
"transcript": "ENST00000936652.1",
"protein_id": "ENSP00000606711.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 781,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936652.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2051G>T",
"hgvs_p": "p.Gly684Val",
"transcript": "ENST00000936660.1",
"protein_id": "ENSP00000606719.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 779,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936660.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2039G>T",
"hgvs_p": "p.Gly680Val",
"transcript": "NM_001413754.1",
"protein_id": "NP_001400683.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 775,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413754.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2039G>T",
"hgvs_p": "p.Gly680Val",
"transcript": "ENST00000936647.1",
"protein_id": "ENSP00000606706.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 775,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936647.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2033G>T",
"hgvs_p": "p.Gly678Val",
"transcript": "ENST00000936644.1",
"protein_id": "ENSP00000606703.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 773,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936644.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2009G>T",
"hgvs_p": "p.Gly670Val",
"transcript": "ENST00000936655.1",
"protein_id": "ENSP00000606714.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 765,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936655.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1685G>T",
"hgvs_p": "p.Gly562Val",
"transcript": "ENST00000936658.1",
"protein_id": "ENSP00000606717.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 657,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936658.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1445G>T",
"hgvs_p": "p.Gly482Val",
"transcript": "ENST00000936662.1",
"protein_id": "ENSP00000606721.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 577,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936662.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Gly438Val",
"transcript": "ENST00000936642.1",
"protein_id": "ENSP00000606701.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 533,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936642.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Gly388Val",
"transcript": "ENST00000936653.1",
"protein_id": "ENSP00000606712.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 483,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936653.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1028G>T",
"hgvs_p": "p.Gly343Val",
"transcript": "ENST00000936633.1",
"protein_id": "ENSP00000606692.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 438,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936633.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2777G>T",
"hgvs_p": "p.Gly926Val",
"transcript": "XM_011520603.3",
"protein_id": "XP_011518905.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520603.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2777G>T",
"hgvs_p": "p.Gly926Val",
"transcript": "XM_017018955.3",
"protein_id": "XP_016874444.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018955.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2777G>T",
"hgvs_p": "p.Gly926Val",
"transcript": "XM_047428475.1",
"protein_id": "XP_047284431.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428475.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_011520599.3",
"protein_id": "XP_011518901.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520599.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2627G>T",
"hgvs_p": "p.Gly876Val",
"transcript": "XM_011520600.3",
"protein_id": "XP_011518902.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 971,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520600.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Gly859Val",
"transcript": "XM_017018957.2",
"protein_id": "XP_016874446.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 954,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018957.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.284-1945G>T",
"hgvs_p": null,
"transcript": "ENST00000542346.1",
"protein_id": "ENSP00000446388.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "n.2882G>T",
"hgvs_p": null,
"transcript": "NR_182209.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182209.1"
}
],
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"dbsnp": "rs141256799",
"frequency_reference_population": 0.0000013763811,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137638,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23894447088241577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.1071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.495,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_004426.3",
"gene_symbol": "PHC1",
"hgnc_id": 3182,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2726G>T",
"hgvs_p": "p.Gly909Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}