← 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: 9-13107016-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13107016&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MPDZ",
"hgnc_id": 7208,
"hgvs_c": "c.6261T>C",
"hgvs_p": "p.Val2087Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001375413.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7821,
"cdna_start": 6512,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001378778.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319217.12",
"protein_coding": true,
"protein_id": "NP_001365707.1",
"strand": false,
"transcript": "NM_001378778.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7821,
"cdna_start": 6512,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000319217.12",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378778.1",
"protein_coding": true,
"protein_id": "ENSP00000320006.7",
"strand": false,
"transcript": "ENST00000319217.12",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "V",
"aa_start": 2025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7603,
"cdna_start": 6297,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6075,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000541718.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6075T>C",
"hgvs_p": "p.Val2025Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439807.1",
"strand": false,
"transcript": "ENST00000541718.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": 6285,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000447879.6",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415208.1",
"strand": false,
"transcript": "ENST00000447879.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2008,
"aa_ref": "V",
"aa_start": 1992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 6019,
"cds_end": null,
"cds_length": 6027,
"cds_start": 5976,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000536827.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5976T>C",
"hgvs_p": "p.Val1992Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444151.1",
"strand": false,
"transcript": "ENST00000536827.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "V",
"aa_start": 2087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7993,
"cdna_start": 6684,
"cds_end": null,
"cds_length": 6312,
"cds_start": 6261,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001375413.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6261T>C",
"hgvs_p": "p.Val2087Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362342.1",
"strand": false,
"transcript": "NM_001375413.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2084,
"aa_ref": "V",
"aa_start": 2068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6342,
"cdna_start": 6269,
"cds_end": null,
"cds_length": 6255,
"cds_start": 6204,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000546205.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6204T>C",
"hgvs_p": "p.Val2068Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446358.1",
"strand": false,
"transcript": "ENST00000546205.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7657,
"cdna_start": 6348,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001330637.2",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317566.1",
"strand": false,
"transcript": "NM_001330637.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7599,
"cdna_start": 6290,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000883518.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553577.1",
"strand": false,
"transcript": "ENST00000883518.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6774,
"cdna_start": 6319,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000883519.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553578.1",
"strand": false,
"transcript": "ENST00000883519.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7869,
"cdna_start": 6555,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000959908.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629967.1",
"strand": false,
"transcript": "ENST00000959908.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "V",
"aa_start": 2025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7734,
"cdna_start": 6425,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6075,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_003829.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6075T>C",
"hgvs_p": "p.Val2025Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003820.2",
"strand": false,
"transcript": "NM_003829.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "V",
"aa_start": 2025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7801,
"cdna_start": 6494,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6075,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000918415.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6075T>C",
"hgvs_p": "p.Val2025Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588474.1",
"strand": false,
"transcript": "ENST00000918415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "V",
"aa_start": 2025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7567,
"cdna_start": 6260,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6075,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000959910.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6075T>C",
"hgvs_p": "p.Val2025Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629969.1",
"strand": false,
"transcript": "ENST00000959910.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7722,
"cdna_start": 6413,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001261406.2",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248335.1",
"strand": false,
"transcript": "NM_001261406.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7558,
"cdna_start": 6249,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001375416.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362345.1",
"strand": false,
"transcript": "NM_001375416.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7795,
"cdna_start": 6486,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001375417.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362346.1",
"strand": false,
"transcript": "NM_001375417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7756,
"cdna_start": 6447,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001375418.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362347.1",
"strand": false,
"transcript": "NM_001375418.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8743,
"cdna_start": 6347,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000883517.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553576.1",
"strand": false,
"transcript": "ENST00000883517.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7609,
"cdna_start": 6303,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000959911.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629970.1",
"strand": false,
"transcript": "ENST00000959911.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2008,
"aa_ref": "V",
"aa_start": 1992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7635,
"cdna_start": 6326,
"cds_end": null,
"cds_length": 6027,
"cds_start": 5976,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001261407.2",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5976T>C",
"hgvs_p": "p.Val1992Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248336.1",
"strand": false,
"transcript": "NM_001261407.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2008,
"aa_ref": "V",
"aa_start": 1992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7471,
"cdna_start": 6162,
"cds_end": null,
"cds_length": 6027,
"cds_start": 5976,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001375419.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5976T>C",
"hgvs_p": "p.Val1992Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362348.1",
"strand": false,
"transcript": "NM_001375419.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7447,
"cdna_start": 6138,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001375420.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362349.1",
"strand": false,
"transcript": "NM_001375420.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8179,
"cdna_start": 6870,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001375421.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362350.1",
"strand": false,
"transcript": "NM_001375421.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7981,
"cdna_start": 6672,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001375422.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362351.1",
"strand": false,
"transcript": "NM_001375422.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7645,
"cdna_start": 6336,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001375423.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362352.1",
"strand": false,
"transcript": "NM_001375423.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7611,
"cdna_start": 6302,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001375424.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362353.1",
"strand": false,
"transcript": "NM_001375424.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "V",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7360,
"cdna_start": 6051,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5865,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001375425.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5865T>C",
"hgvs_p": "p.Val1955Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362354.1",
"strand": false,
"transcript": "NM_001375425.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "V",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7524,
"cdna_start": 6215,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5865,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001375426.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5865T>C",
"hgvs_p": "p.Val1955Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362355.1",
"strand": false,
"transcript": "NM_001375426.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "V",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7492,
"cdna_start": 6188,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5865,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000959912.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5865T>C",
"hgvs_p": "p.Val1955Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629971.1",
"strand": false,
"transcript": "ENST00000959912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "V",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7328,
"cdna_start": 6022,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5865,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000959913.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5865T>C",
"hgvs_p": "p.Val1955Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629972.1",
"strand": false,
"transcript": "ENST00000959913.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1943,
"aa_ref": "V",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7285,
"cdna_start": 5978,
"cds_end": null,
"cds_length": 5832,
"cds_start": 5781,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000959909.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5781T>C",
"hgvs_p": "p.Val1927Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629968.1",
"strand": false,
"transcript": "ENST00000959909.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1934,
"aa_ref": "V",
"aa_start": 1918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7413,
"cdna_start": 6104,
"cds_end": null,
"cds_length": 5805,
"cds_start": 5754,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001375427.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5754T>C",
"hgvs_p": "p.Val1918Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362356.1",
"strand": false,
"transcript": "NM_001375427.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "V",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 2970,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2970,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000545857.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.2970T>C",
"hgvs_p": "p.Val990Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444230.1",
"strand": false,
"transcript": "ENST00000545857.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 929,
"aa_ref": "V",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2739,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000538841.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.2739T>C",
"hgvs_p": "p.Val913Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444717.1",
"strand": false,
"transcript": "ENST00000538841.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 611,
"aa_ref": "V",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1785,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000438511.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.1785T>C",
"hgvs_p": "p.Val595Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415964.1",
"strand": false,
"transcript": "ENST00000438511.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "V",
"aa_start": 2087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8555,
"cdna_start": 7246,
"cds_end": null,
"cds_length": 6312,
"cds_start": 6261,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047424046.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6261T>C",
"hgvs_p": "p.Val2087Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280002.1",
"strand": false,
"transcript": "XM_047424046.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7855,
"cdna_start": 6546,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_006716886.4",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716949.1",
"strand": false,
"transcript": "XM_006716886.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7720,
"cdna_start": 6411,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_024447708.2",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303476.1",
"strand": false,
"transcript": "XM_024447708.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8019,
"cdna_start": 6710,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047424009.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279965.1",
"strand": false,
"transcript": "XM_047424009.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8092,
"cdna_start": 6783,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047424010.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279966.1",
"strand": false,
"transcript": "XM_047424010.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7894,
"cdna_start": 6585,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424012.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279968.1",
"strand": false,
"transcript": "XM_047424012.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7918,
"cdna_start": 6609,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047424013.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279969.1",
"strand": false,
"transcript": "XM_047424013.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8191,
"cdna_start": 6882,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424014.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279970.1",
"strand": false,
"transcript": "XM_047424014.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8025,
"cdna_start": 6716,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047424015.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279971.1",
"strand": false,
"transcript": "XM_047424015.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8292,
"cdna_start": 6983,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_047424016.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279972.1",
"strand": false,
"transcript": "XM_047424016.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7625,
"cdna_start": 6316,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424017.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279973.1",
"strand": false,
"transcript": "XM_047424017.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8707,
"cdna_start": 7398,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047424018.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279974.1",
"strand": false,
"transcript": "XM_047424018.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8480,
"cdna_start": 7171,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047424019.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279975.1",
"strand": false,
"transcript": "XM_047424019.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8777,
"cdna_start": 7468,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047424020.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279976.1",
"strand": false,
"transcript": "XM_047424020.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "V",
"aa_start": 2054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8654,
"cdna_start": 7345,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6162,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047424022.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6162T>C",
"hgvs_p": "p.Val2054Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279978.1",
"strand": false,
"transcript": "XM_047424022.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2042,
"aa_ref": "V",
"aa_start": 2026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7573,
"cdna_start": 6264,
"cds_end": null,
"cds_length": 6129,
"cds_start": 6078,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_017015252.2",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6078T>C",
"hgvs_p": "p.Val2026Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870741.1",
"strand": false,
"transcript": "XM_017015252.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "V",
"aa_start": 2025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7570,
"cdna_start": 6261,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6075,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_006716888.4",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6075T>C",
"hgvs_p": "p.Val2025Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716951.1",
"strand": false,
"transcript": "XM_006716888.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7920,
"cdna_start": 6611,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424023.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279979.1",
"strand": false,
"transcript": "XM_047424023.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7993,
"cdna_start": 6684,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424024.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279980.1",
"strand": false,
"transcript": "XM_047424024.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7621,
"cdna_start": 6312,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424025.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279981.1",
"strand": false,
"transcript": "XM_047424025.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8092,
"cdna_start": 6783,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424026.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279982.1",
"strand": false,
"transcript": "XM_047424026.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7608,
"cdna_start": 6299,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424027.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279983.1",
"strand": false,
"transcript": "XM_047424027.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7819,
"cdna_start": 6510,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424028.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279984.1",
"strand": false,
"transcript": "XM_047424028.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7526,
"cdna_start": 6217,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424029.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279985.1",
"strand": false,
"transcript": "XM_047424029.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8275,
"cdna_start": 6966,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047424031.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279987.1",
"strand": false,
"transcript": "XM_047424031.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "V",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8313,
"cdna_start": 7004,
"cds_end": null,
"cds_length": 6114,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424032.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.6063T>C",
"hgvs_p": "p.Val2021Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279988.1",
"strand": false,
"transcript": "XM_047424032.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2013,
"aa_ref": "V",
"aa_start": 1997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7486,
"cdna_start": 6177,
"cds_end": null,
"cds_length": 6042,
"cds_start": 5991,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047424033.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5991T>C",
"hgvs_p": "p.Val1997Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279989.1",
"strand": false,
"transcript": "XM_047424033.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7836,
"cdna_start": 6527,
"cds_end": null,
"cds_length": 6030,
"cds_start": 5979,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424034.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5979T>C",
"hgvs_p": "p.Val1993Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279990.1",
"strand": false,
"transcript": "XM_047424034.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": 6363,
"cds_end": null,
"cds_length": 6030,
"cds_start": 5979,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424035.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5979T>C",
"hgvs_p": "p.Val1993Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279991.1",
"strand": false,
"transcript": "XM_047424035.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2008,
"aa_ref": "V",
"aa_start": 1992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": 6399,
"cds_end": null,
"cds_length": 6027,
"cds_start": 5976,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_054328427.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5976T>C",
"hgvs_p": "p.Val1992Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_054184402.1",
"strand": false,
"transcript": "XM_054328427.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7882,
"cdna_start": 6573,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424036.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279992.1",
"strand": false,
"transcript": "XM_047424036.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7809,
"cdna_start": 6500,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424037.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279993.1",
"strand": false,
"transcript": "XM_047424037.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7857,
"cdna_start": 6548,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424038.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279994.1",
"strand": false,
"transcript": "XM_047424038.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": 6399,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424039.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279995.1",
"strand": false,
"transcript": "XM_047424039.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7550,
"cdna_start": 6241,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424041.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279997.1",
"strand": false,
"transcript": "XM_047424041.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7849,
"cdna_start": 6540,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424042.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279998.1",
"strand": false,
"transcript": "XM_047424042.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8164,
"cdna_start": 6855,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047424043.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279999.1",
"strand": false,
"transcript": "XM_047424043.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7651,
"cdna_start": 6342,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424044.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280000.1",
"strand": false,
"transcript": "XM_047424044.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2000,
"aa_ref": "V",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7815,
"cdna_start": 6506,
"cds_end": null,
"cds_length": 6003,
"cds_start": 5952,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047424045.1",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "c.5952T>C",
"hgvs_p": "p.Val1984Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280001.1",
"strand": false,
"transcript": "XM_047424045.1",
"transcript_support_level": null
},
{
"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": 3180,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000319198.10",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "n.2662T>C",
"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": "ENST00000319198.10",
"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": 3032,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000381017.6",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "n.1722T>C",
"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": "ENST00000381017.6",
"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": 6574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000539508.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "n.6049T>C",
"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": "ENST00000539508.5",
"transcript_support_level": 5
},
{
"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": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000542806.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "n.*2197T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437651.1",
"strand": false,
"transcript": "ENST00000542806.5",
"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": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000542806.5",
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"hgvs_c": "n.*2197T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437651.1",
"strand": false,
"transcript": "ENST00000542806.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1305570451",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7208,
"gene_symbol": "MPDZ",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.779,
"pos": 13107016,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001375413.1"
}
]
}