← 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: 9-13192205-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13192205&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13192205,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001375413.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378778.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319217.12"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541718.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447879.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536827.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2103,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375413.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 2084,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546205.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330637.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000883518.1",
"protein_id": "ENSP00000553577.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883518.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000883519.1",
"protein_id": "ENSP00000553578.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883519.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959908.1",
"protein_id": "ENSP00000629967.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959908.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003829.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000918415.1",
"protein_id": "ENSP00000588474.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918415.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959910.1",
"protein_id": "ENSP00000629969.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959910.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261406.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375416.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375417.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375418.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000883517.1",
"protein_id": "ENSP00000553576.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883517.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959911.1",
"protein_id": "ENSP00000629970.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959911.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261407.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375419.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375420.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375421.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375422.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375423.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375424.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375425.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375426.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959912.1",
"protein_id": "ENSP00000629971.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959912.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959913.1",
"protein_id": "ENSP00000629972.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959913.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000959909.1",
"protein_id": "ENSP00000629968.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1943,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959909.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001375427.1",
"protein_id": "NP_001362356.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1934,
"cds_start": 1894,
"cds_end": null,
"cds_length": 5805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375427.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424046.1",
"protein_id": "XP_047280002.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2103,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424046.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_006716886.4",
"protein_id": "XP_006716949.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716886.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_024447708.2",
"protein_id": "XP_024303476.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447708.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424009.1",
"protein_id": "XP_047279965.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424009.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424010.1",
"protein_id": "XP_047279966.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424010.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424012.1",
"protein_id": "XP_047279968.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424012.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424013.1",
"protein_id": "XP_047279969.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424013.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424014.1",
"protein_id": "XP_047279970.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424014.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424015.1",
"protein_id": "XP_047279971.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424015.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424016.1",
"protein_id": "XP_047279972.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424016.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424017.1",
"protein_id": "XP_047279973.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424017.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424018.1",
"protein_id": "XP_047279974.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424018.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424019.1",
"protein_id": "XP_047279975.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424019.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424020.1",
"protein_id": "XP_047279976.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424020.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424022.1",
"protein_id": "XP_047279978.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424022.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_017015252.2",
"protein_id": "XP_016870741.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2042,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015252.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_006716888.4",
"protein_id": "XP_006716951.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716888.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424023.1",
"protein_id": "XP_047279979.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424023.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424024.1",
"protein_id": "XP_047279980.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424024.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424025.1",
"protein_id": "XP_047279981.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424025.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424026.1",
"protein_id": "XP_047279982.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424026.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424027.1",
"protein_id": "XP_047279983.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424027.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424028.1",
"protein_id": "XP_047279984.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424028.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424029.1",
"protein_id": "XP_047279985.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424029.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424031.1",
"protein_id": "XP_047279987.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424031.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424032.1",
"protein_id": "XP_047279988.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424032.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424033.1",
"protein_id": "XP_047279989.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2013,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424033.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424034.1",
"protein_id": "XP_047279990.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2009,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424034.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424035.1",
"protein_id": "XP_047279991.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2009,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424035.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_054328427.1",
"protein_id": "XP_054184402.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328427.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424036.1",
"protein_id": "XP_047279992.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424036.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424037.1",
"protein_id": "XP_047279993.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424037.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424038.1",
"protein_id": "XP_047279994.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424038.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424039.1",
"protein_id": "XP_047279995.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424039.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424041.1",
"protein_id": "XP_047279997.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424041.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424042.1",
"protein_id": "XP_047279998.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424042.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424043.1",
"protein_id": "XP_047279999.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424043.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424044.1",
"protein_id": "XP_047280000.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424044.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "XM_047424045.1",
"protein_id": "XP_047280001.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424045.1"
}
],
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"dbsnp": "rs755060398",
"frequency_reference_population": 0.000009934421,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102844,
"gnomad_genomes_af": 0.00000657713,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8477511405944824,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.757,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375413.1",
"gene_symbol": "MPDZ",
"hgnc_id": 7208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1894C>G",
"hgvs_p": "p.Arg632Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}