← 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: 2-189795923-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189795923&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMS1",
"hgnc_id": 9121,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000534.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9818,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9106085300445557,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000534.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441310.7",
"protein_coding": true,
"protein_id": "NP_000525.1",
"strand": true,
"transcript": "NM_000534.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000441310.7",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000534.5",
"protein_coding": true,
"protein_id": "ENSP00000406490.3",
"strand": true,
"transcript": "ENST00000441310.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 165,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 393,
"cds_end": null,
"cds_length": 498,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374826.8",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363959.4",
"strand": true,
"transcript": "ENST00000374826.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000424059.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.287C>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": "ENST00000424059.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 968,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 458,
"cds_end": null,
"cds_length": 2907,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921104.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591163.1",
"strand": true,
"transcript": "ENST00000921104.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2862,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921113.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591172.1",
"strand": true,
"transcript": "ENST00000921113.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 940,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 423,
"cds_end": null,
"cds_length": 2823,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921105.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591164.1",
"strand": true,
"transcript": "ENST00000921105.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321045.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307974.1",
"strand": true,
"transcript": "NM_001321045.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 628,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321047.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307976.1",
"strand": true,
"transcript": "NM_001321047.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 548,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321048.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307977.1",
"strand": true,
"transcript": "NM_001321048.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 447,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899827.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569886.1",
"strand": true,
"transcript": "ENST00000899827.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 661,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899828.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569887.1",
"strand": true,
"transcript": "ENST00000899828.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 548,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899829.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569888.1",
"strand": true,
"transcript": "ENST00000899829.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899832.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569891.1",
"strand": true,
"transcript": "ENST00000899832.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 707,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921101.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591160.1",
"strand": true,
"transcript": "ENST00000921101.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 582,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921103.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591162.1",
"strand": true,
"transcript": "ENST00000921103.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921115.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591174.1",
"strand": true,
"transcript": "ENST00000921115.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 554,
"cds_end": null,
"cds_length": 2799,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961092.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631151.1",
"strand": true,
"transcript": "ENST00000961092.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 931,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2796,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921111.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591170.1",
"strand": true,
"transcript": "ENST00000921111.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 431,
"cds_end": null,
"cds_length": 2748,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921109.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591168.1",
"strand": true,
"transcript": "ENST00000921109.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 901,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2706,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961091.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631150.1",
"strand": true,
"transcript": "ENST00000961091.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001128143.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121615.1",
"strand": true,
"transcript": "NM_001128143.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 400,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409823.7",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387125.3",
"strand": true,
"transcript": "ENST00000409823.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899834.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569893.1",
"strand": true,
"transcript": "ENST00000899834.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 403,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921107.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591166.1",
"strand": true,
"transcript": "ENST00000921107.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 556,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921108.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591167.1",
"strand": true,
"transcript": "ENST00000921108.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 604,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921110.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591169.1",
"strand": true,
"transcript": "ENST00000921110.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 891,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 804,
"cds_end": null,
"cds_length": 2676,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921100.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591159.1",
"strand": true,
"transcript": "ENST00000921100.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 843,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 456,
"cds_end": null,
"cds_length": 2532,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921102.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591161.1",
"strand": true,
"transcript": "ENST00000921102.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001128144.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121616.1",
"strand": true,
"transcript": "NM_001128144.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 357,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000447232.6",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401064.2",
"strand": true,
"transcript": "ENST00000447232.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899830.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569889.1",
"strand": true,
"transcript": "ENST00000899830.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899831.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569890.1",
"strand": true,
"transcript": "ENST00000899831.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 531,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899833.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569892.1",
"strand": true,
"transcript": "ENST00000899833.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961090.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631149.1",
"strand": true,
"transcript": "ENST00000961090.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 731,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2196,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321044.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307973.1",
"strand": true,
"transcript": "NM_001321044.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 816,
"cds_end": null,
"cds_length": 2004,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000418224.7",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404492.4",
"strand": true,
"transcript": "ENST00000418224.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 816,
"cds_end": null,
"cds_length": 747,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000618056.4",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480632.1",
"strand": true,
"transcript": "ENST00000618056.4",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": 535,
"cds_end": null,
"cds_length": 583,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424766.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410082.1",
"strand": true,
"transcript": "ENST00000424766.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 181,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 451,
"cds_end": null,
"cds_length": 546,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321049.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307978.1",
"strand": true,
"transcript": "NM_001321049.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 181,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 451,
"cds_end": null,
"cds_length": 546,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409985.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386623.1",
"strand": true,
"transcript": "ENST00000409985.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 165,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 451,
"cds_end": null,
"cds_length": 498,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321051.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307980.1",
"strand": true,
"transcript": "NM_001321051.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017004344.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859833.1",
"strand": true,
"transcript": "XM_017004344.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 472,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024452966.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308734.1",
"strand": true,
"transcript": "XM_024452966.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024452967.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308735.1",
"strand": true,
"transcript": "XM_024452967.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 628,
"cds_end": null,
"cds_length": 2682,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047444775.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300731.1",
"strand": true,
"transcript": "XM_047444775.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2355,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047444776.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300732.1",
"strand": true,
"transcript": "XM_047444776.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 628,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017004348.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859837.1",
"strand": true,
"transcript": "XM_017004348.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2313,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047444777.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300733.1",
"strand": true,
"transcript": "XM_047444777.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289408.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.-139C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276337.1",
"strand": true,
"transcript": "NM_001289408.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000624204.3",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.-139C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485312.1",
"strand": true,
"transcript": "ENST00000624204.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 871,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": null,
"cds_end": null,
"cds_length": 2616,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321046.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307975.1",
"strand": true,
"transcript": "NM_001321046.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 832,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921112.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591171.1",
"strand": true,
"transcript": "ENST00000921112.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921114.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591173.1",
"strand": true,
"transcript": "ENST00000921114.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289409.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.-111+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276338.1",
"strand": true,
"transcript": "NM_001289409.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432292.7",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.-111+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398378.3",
"strand": true,
"transcript": "ENST00000432292.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 710,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": null,
"cds_end": null,
"cds_length": 2133,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424307.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389938.1",
"strand": true,
"transcript": "ENST00000424307.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 709,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": null,
"cds_end": null,
"cds_length": 2130,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921106.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591165.1",
"strand": true,
"transcript": "ENST00000921106.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 832,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004347.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859836.1",
"strand": true,
"transcript": "XM_017004347.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 709,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": null,
"cds_end": null,
"cds_length": 2130,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004350.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859839.1",
"strand": true,
"transcript": "XM_017004350.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 709,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": null,
"cds_end": null,
"cds_length": 2130,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444778.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300734.1",
"strand": true,
"transcript": "XM_047444778.1",
"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": 3012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000342075.8",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.287C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000343888.4",
"strand": true,
"transcript": "ENST00000342075.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000421722.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.373C>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": "ENST00000421722.5",
"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": 2817,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000450931.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.287C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406225.1",
"strand": true,
"transcript": "ENST00000450931.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_110332.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.548C>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": "NR_110332.2",
"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": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447734.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.132+3982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411151.1",
"strand": true,
"transcript": "ENST00000447734.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 72,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 331,
"cdna_start": null,
"cds_end": null,
"cds_length": 221,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420421.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.*66C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391136.1",
"strand": true,
"transcript": "ENST00000420421.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139414606",
"effect": "missense_variant",
"frequency_reference_population": 0.0000024804572,
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205391,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658007,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.041,
"pos": 189795923,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.808,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000534.5"
}
]
}