← 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: 12-16364003-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=16364003&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 16364003,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001414355.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_020300.5",
"protein_id": "NP_064696.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396210.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020300.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000396210.8",
"protein_id": "ENSP00000379513.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020300.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396210.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000396207.1",
"protein_id": "ENSP00000379510.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.221+6304A>G",
"hgvs_p": null,
"transcript": "ENST00000535309.5",
"protein_id": "ENSP00000438308.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.153-3322A>G",
"hgvs_p": null,
"transcript": "ENST00000542256.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000542256.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Met149Val",
"transcript": "NM_001414355.1",
"protein_id": "NP_001401284.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 160,
"cds_start": 445,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414355.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.436A>G",
"hgvs_p": "p.Met146Val",
"transcript": "NM_001414356.1",
"protein_id": "NP_001401285.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 157,
"cds_start": 436,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414356.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_001260511.2",
"protein_id": "NP_001247440.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260511.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_001414357.1",
"protein_id": "NP_001401286.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414357.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_001414358.1",
"protein_id": "NP_001401287.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414358.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_001414359.1",
"protein_id": "NP_001401288.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414359.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_145764.3",
"protein_id": "NP_665707.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145764.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_145791.3",
"protein_id": "NP_665734.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145791.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "NM_145792.3",
"protein_id": "NP_665735.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145792.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000010404.6",
"protein_id": "ENSP00000010404.2",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000010404.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000396209.5",
"protein_id": "ENSP00000379512.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396209.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902096.1",
"protein_id": "ENSP00000572155.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902096.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902097.1",
"protein_id": "ENSP00000572156.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902097.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902098.1",
"protein_id": "ENSP00000572157.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902098.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902099.1",
"protein_id": "ENSP00000572158.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902099.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902100.1",
"protein_id": "ENSP00000572159.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902100.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902101.1",
"protein_id": "ENSP00000572160.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902101.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902102.1",
"protein_id": "ENSP00000572161.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902102.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902103.1",
"protein_id": "ENSP00000572162.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902103.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902104.1",
"protein_id": "ENSP00000572163.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902104.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902105.1",
"protein_id": "ENSP00000572164.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902105.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902106.1",
"protein_id": "ENSP00000572165.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902106.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902107.1",
"protein_id": "ENSP00000572166.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902107.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902108.1",
"protein_id": "ENSP00000572167.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902108.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902109.1",
"protein_id": "ENSP00000572168.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902109.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902110.1",
"protein_id": "ENSP00000572169.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902110.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902111.1",
"protein_id": "ENSP00000572170.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902111.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902112.1",
"protein_id": "ENSP00000572171.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902112.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902113.1",
"protein_id": "ENSP00000572172.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902113.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902114.1",
"protein_id": "ENSP00000572173.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902114.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902115.1",
"protein_id": "ENSP00000572174.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902115.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000902116.1",
"protein_id": "ENSP00000572175.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902116.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921236.1",
"protein_id": "ENSP00000591295.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921236.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921237.1",
"protein_id": "ENSP00000591296.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921237.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921238.1",
"protein_id": "ENSP00000591297.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921238.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921239.1",
"protein_id": "ENSP00000591298.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921239.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921240.1",
"protein_id": "ENSP00000591299.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921240.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000921241.1",
"protein_id": "ENSP00000591300.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921241.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000960433.1",
"protein_id": "ENSP00000630492.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960433.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Met144Val",
"transcript": "ENST00000960434.1",
"protein_id": "ENSP00000630493.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 430,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960434.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Met137Val",
"transcript": "NM_001414361.1",
"protein_id": "NP_001401290.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 148,
"cds_start": 409,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414361.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Met113Val",
"transcript": "NM_001414363.1",
"protein_id": "NP_001401292.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 124,
"cds_start": 337,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414363.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "NM_001414365.1",
"protein_id": "NP_001401294.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 119,
"cds_start": 322,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414365.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "ENST00000902095.1",
"protein_id": "ENSP00000572154.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 119,
"cds_start": 322,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902095.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "ENST00000921235.1",
"protein_id": "ENSP00000591294.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 119,
"cds_start": 322,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*253A>G",
"hgvs_p": null,
"transcript": "NM_001260512.2",
"protein_id": "NP_001247441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260512.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*194A>G",
"hgvs_p": null,
"transcript": "NM_001414368.1",
"protein_id": "NP_001401297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*198A>G",
"hgvs_p": null,
"transcript": "NM_001414369.1",
"protein_id": "NP_001401298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*194A>G",
"hgvs_p": null,
"transcript": "NM_001414370.1",
"protein_id": "NP_001401299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*213A>G",
"hgvs_p": null,
"transcript": "NM_001414371.1",
"protein_id": "NP_001401300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*198A>G",
"hgvs_p": null,
"transcript": "NM_001414372.1",
"protein_id": "NP_001401301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*194A>G",
"hgvs_p": null,
"transcript": "NM_001414373.1",
"protein_id": "NP_001401302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*194A>G",
"hgvs_p": null,
"transcript": "NM_001414374.1",
"protein_id": "NP_001401303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*194A>G",
"hgvs_p": null,
"transcript": "ENST00000540056.5",
"protein_id": "ENSP00000437988.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540056.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "NM_001414360.1",
"protein_id": "NP_001401289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "NM_001414362.1",
"protein_id": "NP_001401291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "NM_001414364.1",
"protein_id": "NP_001401293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.114-3322A>G",
"hgvs_p": null,
"transcript": "NM_001414366.1",
"protein_id": "NP_001401295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-138A>G",
"hgvs_p": null,
"transcript": "NM_001414367.1",
"protein_id": "NP_001401296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.221+6304A>G",
"hgvs_p": null,
"transcript": "NM_001267598.2",
"protein_id": "NP_001254527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267598.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "XM_047428855.1",
"protein_id": "XP_047284811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "XM_047428856.1",
"protein_id": "XP_047284812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "XM_047428857.1",
"protein_id": "XP_047284813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.222-3322A>G",
"hgvs_p": null,
"transcript": "XM_047428858.1",
"protein_id": "XP_047284814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.398A>G",
"hgvs_p": null,
"transcript": "ENST00000535624.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.643A>G",
"hgvs_p": null,
"transcript": "ENST00000539708.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000539708.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.1436A>G",
"hgvs_p": null,
"transcript": "ENST00000624056.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000624056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.423A>G",
"hgvs_p": null,
"transcript": "NR_048545.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048545.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.478A>G",
"hgvs_p": null,
"transcript": "NR_048547.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048547.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.370A>G",
"hgvs_p": null,
"transcript": "NR_182294.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.275A>G",
"hgvs_p": null,
"transcript": "NR_182295.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.244-3322A>G",
"hgvs_p": null,
"transcript": "ENST00000538857.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000538857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.302+6304A>G",
"hgvs_p": null,
"transcript": "ENST00000539036.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000539036.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*4A>G",
"hgvs_p": null,
"transcript": "ENST00000543076.5",
"protein_id": "ENSP00000442767.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543076.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*189A>G",
"hgvs_p": null,
"transcript": "ENST00000540126.5",
"protein_id": "ENSP00000442970.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540126.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.*197A>G",
"hgvs_p": null,
"transcript": "ENST00000536371.5",
"protein_id": "ENSP00000442557.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536371.5"
}
],
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"dbsnp": "rs375791210",
"frequency_reference_population": 0.000019831876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000212128,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8605265021324158,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4733,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.02,
"phylop100way_prediction": "Pathogenic",
"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_001414355.1",
"gene_symbol": "MGST1",
"hgnc_id": 7061,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Met149Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}