← 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: 9-13140097-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13140097&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13140097,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000319217.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4016,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2008,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 4316,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3935C>T",
"hgvs_p": "p.Pro1312Leu",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 1312,
"aa_end": null,
"aa_length": 2084,
"cds_start": 3935,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 4000,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 3980,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4178,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2008,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2008,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 3980,
"cdna_end": null,
"cdna_length": 7471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3869,
"cdna_end": null,
"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4601,
"cdna_end": null,
"cdna_length": 8179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1971,
"cds_start": 3683,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 3869,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1971,
"cds_start": 3683,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3485C>T",
"hgvs_p": "p.Pro1162Leu",
"transcript": "NM_001375427.1",
"protein_id": "NP_001362356.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1934,
"cds_start": 3485,
"cds_end": null,
"cds_length": 5805,
"cdna_start": 3835,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Pro234Leu",
"transcript": "ENST00000545857.5",
"protein_id": "ENSP00000444230.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 1006,
"cds_start": 701,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Pro157Leu",
"transcript": "ENST00000538841.5",
"protein_id": "ENSP00000444717.1",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 929,
"cds_start": 470,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Pro120Leu",
"transcript": "ENST00000433359.6",
"protein_id": "ENSP00000389705.2",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 190,
"cds_start": 359,
"cds_end": null,
"cds_length": 575,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424046.1",
"protein_id": "XP_047280002.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 4878,
"cdna_end": null,
"cdna_length": 8555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_006716886.4",
"protein_id": "XP_006716949.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 7855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_024447708.2",
"protein_id": "XP_024303476.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4142,
"cdna_end": null,
"cdna_length": 7720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424009.1",
"protein_id": "XP_047279965.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4441,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424010.1",
"protein_id": "XP_047279966.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424012.1",
"protein_id": "XP_047279968.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4316,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424013.1",
"protein_id": "XP_047279969.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4340,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424014.1",
"protein_id": "XP_047279970.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4613,
"cdna_end": null,
"cdna_length": 8191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424015.1",
"protein_id": "XP_047279971.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4447,
"cdna_end": null,
"cdna_length": 8025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424016.1",
"protein_id": "XP_047279972.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4714,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424017.1",
"protein_id": "XP_047279973.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424018.1",
"protein_id": "XP_047279974.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5129,
"cdna_end": null,
"cdna_length": 8707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424019.1",
"protein_id": "XP_047279975.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424020.1",
"protein_id": "XP_047279976.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5199,
"cdna_end": null,
"cdna_length": 8777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424022.1",
"protein_id": "XP_047279978.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 8654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_017015252.2",
"protein_id": "XP_016870741.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2042,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_006716888.4",
"protein_id": "XP_006716951.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424023.1",
"protein_id": "XP_047279979.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424024.1",
"protein_id": "XP_047279980.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4415,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424025.1",
"protein_id": "XP_047279981.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4043,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424026.1",
"protein_id": "XP_047279982.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424027.1",
"protein_id": "XP_047279983.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424028.1",
"protein_id": "XP_047279984.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4241,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424029.1",
"protein_id": "XP_047279985.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424031.1",
"protein_id": "XP_047279987.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4697,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424032.1",
"protein_id": "XP_047279988.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4735,
"cdna_end": null,
"cdna_length": 8313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu",
"transcript": "XM_047424033.1",
"protein_id": "XP_047279989.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 2013,
"cds_start": 3893,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424034.1",
"protein_id": "XP_047279990.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 7836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_047424035.1",
"protein_id": "XP_047279991.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4178,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_054328427.1",
"protein_id": "XP_054184402.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 2008,
"cds_start": 3794,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424036.1",
"protein_id": "XP_047279992.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4304,
"cdna_end": null,
"cdna_length": 7882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424037.1",
"protein_id": "XP_047279993.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424038.1",
"protein_id": "XP_047279994.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424039.1",
"protein_id": "XP_047279995.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424041.1",
"protein_id": "XP_047279997.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424042.1",
"protein_id": "XP_047279998.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4271,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424043.1",
"protein_id": "XP_047279999.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4586,
"cdna_end": null,
"cdna_length": 8164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424044.1",
"protein_id": "XP_047280000.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4073,
"cdna_end": null,
"cdna_length": 7651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "XM_047424045.1",
"protein_id": "XP_047280001.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3683,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"transcript": "ENST00000319198.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.1593C>T",
"hgvs_p": null,
"transcript": "ENST00000539508.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.154C>T",
"hgvs_p": null,
"transcript": "ENST00000540202.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.-29C>T",
"hgvs_p": null,
"transcript": "ENST00000535169.1",
"protein_id": "ENSP00000446298.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.-53C>T",
"hgvs_p": null,
"transcript": "ENST00000542806.5",
"protein_id": "ENSP00000437651.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"dbsnp": "rs76115127",
"frequency_reference_population": 0.002855099,
"hom_count_reference_population": 143,
"allele_count_reference_population": 4606,
"gnomad_exomes_af": 0.00154425,
"gnomad_genomes_af": 0.0154841,
"gnomad_exomes_ac": 2257,
"gnomad_genomes_ac": 2349,
"gnomad_exomes_homalt": 73,
"gnomad_genomes_homalt": 70,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026310980319976807,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.907,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000319217.12",
"gene_symbol": "MPDZ",
"hgnc_id": 7208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3893C>T",
"hgvs_p": "p.Pro1298Leu"
}
],
"clinvar_disease": "MPDZ-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided|MPDZ-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}