← 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: 2-127426227-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127426227&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "PROC",
"hgnc_id": 9451,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Gln288Gln",
"inheritance_mode": "SD,AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001375607.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC105373608",
"hgnc_id": null,
"hgvs_c": "n.3078C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "XR_007087228.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant,Thrombophilia due to protein C deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000312.4",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234071.8",
"protein_coding": true,
"protein_id": "NP_000303.1",
"strand": true,
"transcript": "NM_000312.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000234071.8",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000312.4",
"protein_coding": true,
"protein_id": "ENSP00000234071.4",
"strand": true,
"transcript": "ENST00000234071.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 523,
"aa_ref": "Q",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1572,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375607.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Gln288Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362536.1",
"strand": true,
"transcript": "NM_001375607.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "Q",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1569,
"cds_start": 861,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375602.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Gln287Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362531.1",
"strand": true,
"transcript": "NM_001375602.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 519,
"aa_ref": "Q",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1560,
"cds_start": 852,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883860.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Gln284Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553919.1",
"strand": true,
"transcript": "ENST00000883860.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 519,
"aa_ref": "Q",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1560,
"cds_start": 852,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883897.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Gln284Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553956.1",
"strand": true,
"transcript": "ENST00000883897.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 517,
"aa_ref": "Q",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1554,
"cds_start": 846,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375606.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Gln282Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362535.1",
"strand": true,
"transcript": "NM_001375606.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "Q",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1551,
"cds_start": 843,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375603.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.843G>A",
"hgvs_p": "p.Gln281Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362532.1",
"strand": true,
"transcript": "NM_001375603.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1539,
"cds_start": 831,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883902.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.831G>A",
"hgvs_p": "p.Gln277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553961.1",
"strand": true,
"transcript": "ENST00000883902.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375605.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362534.1",
"strand": true,
"transcript": "NM_001375605.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409048.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386679.1",
"strand": true,
"transcript": "ENST00000409048.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883843.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553902.1",
"strand": true,
"transcript": "ENST00000883843.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883844.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553903.1",
"strand": true,
"transcript": "ENST00000883844.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883854.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553913.1",
"strand": true,
"transcript": "ENST00000883854.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883858.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553917.1",
"strand": true,
"transcript": "ENST00000883858.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883861.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553920.1",
"strand": true,
"transcript": "ENST00000883861.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883880.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553939.1",
"strand": true,
"transcript": "ENST00000883880.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883881.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553940.1",
"strand": true,
"transcript": "ENST00000883881.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883888.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553947.1",
"strand": true,
"transcript": "ENST00000883888.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883893.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553952.1",
"strand": true,
"transcript": "ENST00000883893.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883894.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553953.1",
"strand": true,
"transcript": "ENST00000883894.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1488,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883895.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553954.1",
"strand": true,
"transcript": "ENST00000883895.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1482,
"cds_start": 774,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883865.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Gln258Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553924.1",
"strand": true,
"transcript": "ENST00000883865.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1482,
"cds_start": 774,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883901.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Gln258Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553960.1",
"strand": true,
"transcript": "ENST00000883901.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "Q",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1458,
"cds_start": 750,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883851.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.750G>A",
"hgvs_p": "p.Gln250Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553910.1",
"strand": true,
"transcript": "ENST00000883851.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "Q",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1458,
"cds_start": 750,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883856.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.750G>A",
"hgvs_p": "p.Gln250Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553915.1",
"strand": true,
"transcript": "ENST00000883856.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "Q",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1458,
"cds_start": 750,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883898.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.750G>A",
"hgvs_p": "p.Gln250Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553957.1",
"strand": true,
"transcript": "ENST00000883898.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 482,
"aa_ref": "Q",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1449,
"cds_start": 741,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375604.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.741G>A",
"hgvs_p": "p.Gln247Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362533.1",
"strand": true,
"transcript": "NM_001375604.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "Q",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1437,
"cds_start": 729,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883857.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553916.1",
"strand": true,
"transcript": "ENST00000883857.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "Q",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1437,
"cds_start": 729,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883868.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553927.1",
"strand": true,
"transcript": "ENST00000883868.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "Q",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1437,
"cds_start": 729,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883870.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553929.1",
"strand": true,
"transcript": "ENST00000883870.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "Q",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1437,
"cds_start": 729,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883900.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553959.1",
"strand": true,
"transcript": "ENST00000883900.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1416,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883869.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553928.1",
"strand": true,
"transcript": "ENST00000883869.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375611.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362540.1",
"strand": true,
"transcript": "NM_001375611.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375613.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362542.1",
"strand": true,
"transcript": "NM_001375613.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883837.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553896.1",
"strand": true,
"transcript": "ENST00000883837.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883838.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553897.1",
"strand": true,
"transcript": "ENST00000883838.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883839.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553898.1",
"strand": true,
"transcript": "ENST00000883839.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883840.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553899.1",
"strand": true,
"transcript": "ENST00000883840.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883841.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553900.1",
"strand": true,
"transcript": "ENST00000883841.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883842.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553901.1",
"strand": true,
"transcript": "ENST00000883842.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883845.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553904.1",
"strand": true,
"transcript": "ENST00000883845.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883847.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553906.1",
"strand": true,
"transcript": "ENST00000883847.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883849.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553908.1",
"strand": true,
"transcript": "ENST00000883849.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883850.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553909.1",
"strand": true,
"transcript": "ENST00000883850.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883852.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553911.1",
"strand": true,
"transcript": "ENST00000883852.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883859.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553918.1",
"strand": true,
"transcript": "ENST00000883859.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883871.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553930.1",
"strand": true,
"transcript": "ENST00000883871.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883872.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553931.1",
"strand": true,
"transcript": "ENST00000883872.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883873.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553932.1",
"strand": true,
"transcript": "ENST00000883873.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883874.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553933.1",
"strand": true,
"transcript": "ENST00000883874.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883876.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553935.1",
"strand": true,
"transcript": "ENST00000883876.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883877.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553936.1",
"strand": true,
"transcript": "ENST00000883877.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883878.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553937.1",
"strand": true,
"transcript": "ENST00000883878.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883882.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553941.1",
"strand": true,
"transcript": "ENST00000883882.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883884.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553943.1",
"strand": true,
"transcript": "ENST00000883884.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883885.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553944.1",
"strand": true,
"transcript": "ENST00000883885.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883886.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553945.1",
"strand": true,
"transcript": "ENST00000883886.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883887.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553946.1",
"strand": true,
"transcript": "ENST00000883887.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883889.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553948.1",
"strand": true,
"transcript": "ENST00000883889.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883890.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553949.1",
"strand": true,
"transcript": "ENST00000883890.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883891.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553950.1",
"strand": true,
"transcript": "ENST00000883891.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1386,
"cds_start": 678,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883892.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553951.1",
"strand": true,
"transcript": "ENST00000883892.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375610.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362539.1",
"strand": true,
"transcript": "NM_001375610.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883848.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553907.1",
"strand": true,
"transcript": "ENST00000883848.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883863.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553922.1",
"strand": true,
"transcript": "ENST00000883863.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883866.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553925.1",
"strand": true,
"transcript": "ENST00000883866.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883875.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553934.1",
"strand": true,
"transcript": "ENST00000883875.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883899.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Gln224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553958.1",
"strand": true,
"transcript": "ENST00000883899.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 453,
"aa_ref": "Q",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1362,
"cds_start": 654,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375609.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362538.1",
"strand": true,
"transcript": "NM_001375609.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375608.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362537.1",
"strand": true,
"transcript": "NM_001375608.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883846.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553905.1",
"strand": true,
"transcript": "ENST00000883846.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883853.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553912.1",
"strand": true,
"transcript": "ENST00000883853.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883879.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553938.1",
"strand": true,
"transcript": "ENST00000883879.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883883.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553942.1",
"strand": true,
"transcript": "ENST00000883883.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1329,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883896.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Gln207Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553955.1",
"strand": true,
"transcript": "ENST00000883896.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 440,
"aa_ref": "Q",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1323,
"cds_start": 615,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883903.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.615G>A",
"hgvs_p": "p.Gln205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553962.1",
"strand": true,
"transcript": "ENST00000883903.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1251,
"cds_start": 543,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883867.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gln181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553926.1",
"strand": true,
"transcript": "ENST00000883867.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 415,
"aa_ref": "Q",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1248,
"cds_start": 540,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883862.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Gln180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553921.1",
"strand": true,
"transcript": "ENST00000883862.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 415,
"aa_ref": "Q",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1248,
"cds_start": 540,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883904.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Gln180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553963.1",
"strand": true,
"transcript": "ENST00000883904.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 397,
"aa_ref": "Q",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1194,
"cds_start": 486,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883855.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.486G>A",
"hgvs_p": "p.Gln162Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553914.1",
"strand": true,
"transcript": "ENST00000883855.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 397,
"aa_ref": "Q",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1194,
"cds_start": 486,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883864.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.486G>A",
"hgvs_p": "p.Gln162Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553923.1",
"strand": true,
"transcript": "ENST00000883864.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 556,
"aa_ref": "Q",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1671,
"cds_start": 963,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453003.2",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Gln321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308771.1",
"strand": true,
"transcript": "XM_024453003.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 524,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1575,
"cds_start": 867,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047445117.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.867G>A",
"hgvs_p": "p.Gln289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301073.1",
"strand": true,
"transcript": "XM_047445117.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 356,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1071,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453002.2",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gln121Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308770.2",
"strand": true,
"transcript": "XM_024453002.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 356,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1071,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047445118.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gln121Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301074.1",
"strand": true,
"transcript": "XM_047445118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 272,
"aa_ref": "Q",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 730,
"cds_end": null,
"cds_length": 819,
"cds_start": 111,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017004505.2",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.111G>A",
"hgvs_p": "p.Gln37Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859994.2",
"strand": true,
"transcript": "XM_017004505.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": null,
"cds_end": null,
"cds_length": 708,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402125.2",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.119-2130G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384225.2",
"strand": true,
"transcript": "ENST00000402125.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000464089.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "n.264G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000464089.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007087228.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105373608",
"hgvs_c": "n.3078C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007087228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442644.5",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.*96G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411241.1",
"strand": true,
"transcript": "ENST00000442644.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999984156602331,
"dbsnp": "rs121918155",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 6.8415176e-7,
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84152e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Thrombophilia due to protein C deficiency, autosomal dominant",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.991,
"pos": 127426227,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9879999756813049,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.89,
"transcript": "NM_001375607.1"
}
]
}