← 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: 11-66849045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66849045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PP3",
"BP4",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PC",
"hgnc_id": 8636,
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_000920.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4,BP6,BS1",
"acmg_score": -5,
"allele_count_reference_population": 149,
"alphamissense_prediction": null,
"alphamissense_score": 0.8305,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Pyruvate carboxylase deficiency,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3375815451145172,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 3680,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001040716.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393960.7",
"protein_coding": true,
"protein_id": "NP_001035806.1",
"strand": false,
"transcript": "NM_001040716.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 3680,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000393960.7",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040716.2",
"protein_coding": true,
"protein_id": "ENSP00000377532.1",
"strand": false,
"transcript": "ENST00000393960.7",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000393955.6",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377527.2",
"strand": false,
"transcript": "ENST00000393955.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000393958.7",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377530.2",
"strand": false,
"transcript": "ENST00000393958.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "V",
"aa_start": 1200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 3653,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882265.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552324.1",
"strand": false,
"transcript": "ENST00000882265.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "V",
"aa_start": 1200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 3699,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951202.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621261.1",
"strand": false,
"transcript": "ENST00000951202.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000920.4",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000911.2",
"strand": false,
"transcript": "NM_000920.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 3620,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001439352.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426281.1",
"strand": false,
"transcript": "NM_001439352.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439353.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426282.1",
"strand": false,
"transcript": "NM_001439353.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 3937,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001439355.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426284.1",
"strand": false,
"transcript": "NM_001439355.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 3749,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001439357.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426286.1",
"strand": false,
"transcript": "NM_001439357.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": 3656,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001439358.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426287.1",
"strand": false,
"transcript": "NM_001439358.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439359.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426288.1",
"strand": false,
"transcript": "NM_001439359.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_022172.3",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071504.2",
"strand": false,
"transcript": "NM_022172.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 3620,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000529047.6",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435905.2",
"strand": false,
"transcript": "ENST00000529047.6",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": 4241,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000651036.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498406.1",
"strand": false,
"transcript": "ENST00000651036.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": 4642,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000651854.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498994.1",
"strand": false,
"transcript": "ENST00000651854.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000652125.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498302.1",
"strand": false,
"transcript": "ENST00000652125.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4451,
"cdna_start": 3614,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882252.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552311.1",
"strand": false,
"transcript": "ENST00000882252.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3594,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882253.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552312.1",
"strand": false,
"transcript": "ENST00000882253.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882254.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552313.1",
"strand": false,
"transcript": "ENST00000882254.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": 3969,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000882255.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552314.1",
"strand": false,
"transcript": "ENST00000882255.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 3947,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000882256.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552315.1",
"strand": false,
"transcript": "ENST00000882256.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882259.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552318.1",
"strand": false,
"transcript": "ENST00000882259.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 3700,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000882261.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552320.1",
"strand": false,
"transcript": "ENST00000882261.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000882262.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552321.1",
"strand": false,
"transcript": "ENST00000882262.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 3580,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882266.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552325.1",
"strand": false,
"transcript": "ENST00000882266.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 3530,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882267.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552326.1",
"strand": false,
"transcript": "ENST00000882267.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4298,
"cdna_start": 3780,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000882270.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552329.1",
"strand": false,
"transcript": "ENST00000882270.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 3781,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882271.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552330.1",
"strand": false,
"transcript": "ENST00000882271.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882272.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552331.1",
"strand": false,
"transcript": "ENST00000882272.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4572,
"cdna_start": 4053,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882273.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552332.1",
"strand": false,
"transcript": "ENST00000882273.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3585,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882274.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552333.1",
"strand": false,
"transcript": "ENST00000882274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 3411,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882275.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552334.1",
"strand": false,
"transcript": "ENST00000882275.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882276.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552335.1",
"strand": false,
"transcript": "ENST00000882276.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882277.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552336.1",
"strand": false,
"transcript": "ENST00000882277.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 3614,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882278.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552337.1",
"strand": false,
"transcript": "ENST00000882278.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000951199.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621258.1",
"strand": false,
"transcript": "ENST00000951199.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 3618,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000951200.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621259.1",
"strand": false,
"transcript": "ENST00000951200.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951201.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621260.1",
"strand": false,
"transcript": "ENST00000951201.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 3676,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000951203.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621262.1",
"strand": false,
"transcript": "ENST00000951203.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3609,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000951206.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621265.1",
"strand": false,
"transcript": "ENST00000951206.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951207.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621266.1",
"strand": false,
"transcript": "ENST00000951207.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000951208.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621267.1",
"strand": false,
"transcript": "ENST00000951208.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "V",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3382,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951205.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3382G>A",
"hgvs_p": "p.Val1128Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621264.1",
"strand": false,
"transcript": "ENST00000951205.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3992,
"cdna_start": 3468,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882258.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Val1123Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552317.1",
"strand": false,
"transcript": "ENST00000882258.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882268.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Val1123Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552327.1",
"strand": false,
"transcript": "ENST00000882268.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 3628,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882269.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Val1123Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552328.1",
"strand": false,
"transcript": "ENST00000882269.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": 3465,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000939721.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Val1123Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609780.1",
"strand": false,
"transcript": "ENST00000939721.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "V",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 3596,
"cds_end": null,
"cds_length": 3450,
"cds_start": 3304,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000882260.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3304G>A",
"hgvs_p": "p.Val1102Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552319.1",
"strand": false,
"transcript": "ENST00000882260.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "V",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 3404,
"cds_end": null,
"cds_length": 3450,
"cds_start": 3304,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951204.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3304G>A",
"hgvs_p": "p.Val1102Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621263.1",
"strand": false,
"transcript": "ENST00000951204.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "V",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882264.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3301G>A",
"hgvs_p": "p.Val1101Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552323.1",
"strand": false,
"transcript": "ENST00000882264.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "V",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3226,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000882257.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3226G>A",
"hgvs_p": "p.Val1076Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552316.1",
"strand": false,
"transcript": "ENST00000882257.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "V",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3339,
"cds_start": 3193,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951198.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Val1065Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621257.1",
"strand": false,
"transcript": "ENST00000951198.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1083,
"aa_ref": "V",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 3207,
"cds_end": null,
"cds_length": 3252,
"cds_start": 3106,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000882263.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3106G>A",
"hgvs_p": "p.Val1036Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552322.1",
"strand": false,
"transcript": "ENST00000882263.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 3478,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005274031.5",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274088.1",
"strand": false,
"transcript": "XM_005274031.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5268,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005274032.5",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274089.1",
"strand": false,
"transcript": "XM_005274032.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 3808,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017017869.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873358.1",
"strand": false,
"transcript": "XM_017017869.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 2378,
"cds_end": null,
"cds_length": 2241,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011545087.3",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.2095G>A",
"hgvs_p": "p.Val699Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543389.1",
"strand": false,
"transcript": "XM_011545087.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 671,
"aa_ref": "V",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006718579.4",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718642.1",
"strand": false,
"transcript": "XM_006718579.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 671,
"aa_ref": "V",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047427058.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283014.1",
"strand": false,
"transcript": "XM_047427058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000528224.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "n.*1400G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498317.1",
"strand": false,
"transcript": "ENST00000528224.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000651469.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "n.*1867G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498712.1",
"strand": false,
"transcript": "ENST00000651469.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000528224.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "n.*1400G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498317.1",
"strand": false,
"transcript": "ENST00000528224.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000651469.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "n.*1867G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498712.1",
"strand": false,
"transcript": "ENST00000651469.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs116518022",
"effect": "missense_variant",
"frequency_reference_population": 0.000092313676,
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"gnomad_exomes_ac": 80,
"gnomad_exomes_af": 0.0000547305,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 69,
"gnomad_genomes_af": 0.000452893,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Pyruvate carboxylase deficiency|Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.468,
"pos": 66849045,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.725,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000920.4"
}
]
}