← 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: 1-150997327-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150997327&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150997327,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001376664.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "NM_001376665.1",
"protein_id": "NP_001363594.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683666.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376665.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000683666.2",
"protein_id": "ENSP00000507359.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376665.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683666.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000361936.9",
"protein_id": "ENSP00000354814.5",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361936.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000943009.1",
"protein_id": "ENSP00000613068.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 473,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943009.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu",
"transcript": "NM_001376664.1",
"protein_id": "NP_001363593.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 470,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376664.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "NM_001163258.3",
"protein_id": "NP_001156730.3",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163258.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "NM_001319998.2",
"protein_id": "NP_001306927.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319998.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "NM_018379.5",
"protein_id": "NP_060849.3",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018379.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000361738.12",
"protein_id": "ENSP00000354669.7",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361738.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000888222.1",
"protein_id": "ENSP00000558281.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888222.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000888224.1",
"protein_id": "ENSP00000558283.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888224.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000931104.1",
"protein_id": "ENSP00000601163.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931104.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000931106.1",
"protein_id": "ENSP00000601165.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931106.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000943004.1",
"protein_id": "ENSP00000613063.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943004.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000943008.1",
"protein_id": "ENSP00000613067.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943008.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1361G>T",
"hgvs_p": "p.Arg454Leu",
"transcript": "ENST00000888227.1",
"protein_id": "ENSP00000558286.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 466,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888227.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1361G>T",
"hgvs_p": "p.Arg454Leu",
"transcript": "ENST00000888230.1",
"protein_id": "ENSP00000558289.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 466,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888230.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"transcript": "NM_001376666.1",
"protein_id": "NP_001363595.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 461,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376666.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"transcript": "ENST00000943000.1",
"protein_id": "ENSP00000613059.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 461,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943000.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"transcript": "ENST00000943010.1",
"protein_id": "ENSP00000613069.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 461,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943010.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"transcript": "NM_001376667.1",
"protein_id": "NP_001363596.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 460,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376667.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"transcript": "NM_001376668.1",
"protein_id": "NP_001363597.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 460,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376668.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"transcript": "ENST00000888226.1",
"protein_id": "ENSP00000558285.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 460,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888226.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "ENST00000888228.1",
"protein_id": "ENSP00000558287.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 459,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888228.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "ENST00000888229.1",
"protein_id": "ENSP00000558288.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 459,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888229.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "ENST00000942999.1",
"protein_id": "ENSP00000613058.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 459,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942999.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "ENST00000943013.1",
"protein_id": "ENSP00000613072.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 459,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943013.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1331G>T",
"hgvs_p": "p.Arg444Leu",
"transcript": "ENST00000943003.1",
"protein_id": "ENSP00000613062.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 456,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943003.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Arg443Leu",
"transcript": "ENST00000888223.1",
"protein_id": "ENSP00000558282.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 455,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888223.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Arg443Leu",
"transcript": "ENST00000943002.1",
"protein_id": "ENSP00000613061.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 455,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943002.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Arg438Leu",
"transcript": "ENST00000943007.1",
"protein_id": "ENSP00000613066.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 450,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943007.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1301G>T",
"hgvs_p": "p.Arg434Leu",
"transcript": "ENST00000888225.1",
"protein_id": "ENSP00000558284.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 446,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888225.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1298G>T",
"hgvs_p": "p.Arg433Leu",
"transcript": "ENST00000943006.1",
"protein_id": "ENSP00000613065.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 445,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943006.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Leu",
"transcript": "ENST00000943011.1",
"protein_id": "ENSP00000613070.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 425,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943011.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1214G>T",
"hgvs_p": "p.Arg405Leu",
"transcript": "ENST00000943001.1",
"protein_id": "ENSP00000613060.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 417,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943001.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1211G>T",
"hgvs_p": "p.Arg404Leu",
"transcript": "NM_001376669.1",
"protein_id": "NP_001363598.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 416,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376669.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1211G>T",
"hgvs_p": "p.Arg404Leu",
"transcript": "ENST00000888231.1",
"protein_id": "ENSP00000558290.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 416,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888231.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1211G>T",
"hgvs_p": "p.Arg404Leu",
"transcript": "ENST00000931105.1",
"protein_id": "ENSP00000601164.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 416,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931105.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1211G>T",
"hgvs_p": "p.Arg404Leu",
"transcript": "ENST00000943012.1",
"protein_id": "ENSP00000613071.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 416,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943012.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1184G>T",
"hgvs_p": "p.Arg395Leu",
"transcript": "NM_001376670.1",
"protein_id": "NP_001363599.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 407,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376670.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1169G>T",
"hgvs_p": "p.Arg390Leu",
"transcript": "ENST00000943005.1",
"protein_id": "ENSP00000613064.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 402,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943005.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1085G>T",
"hgvs_p": "p.Arg362Leu",
"transcript": "NM_001163259.2",
"protein_id": "NP_001156731.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 374,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163259.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1085G>T",
"hgvs_p": "p.Arg362Leu",
"transcript": "ENST00000493834.2",
"protein_id": "ENSP00000437174.2",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 374,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493834.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Arg315Leu",
"transcript": "NM_001040217.3",
"protein_id": "NP_001035307.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 327,
"cds_start": 944,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040217.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Arg315Leu",
"transcript": "NM_001163260.2",
"protein_id": "NP_001156732.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 327,
"cds_start": 944,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163260.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Arg315Leu",
"transcript": "ENST00000312210.9",
"protein_id": "ENSP00000310923.5",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 327,
"cds_start": 944,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312210.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Arg292Leu",
"transcript": "NM_001376671.1",
"protein_id": "NP_001363600.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 304,
"cds_start": 875,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376671.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "NM_001376672.1",
"protein_id": "NP_001363601.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 303,
"cds_start": 872,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376672.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "NM_001376673.1",
"protein_id": "NP_001363602.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 303,
"cds_start": 872,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376673.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "NM_001376674.1",
"protein_id": "NP_001363603.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 294,
"cds_start": 845,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376674.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1514G>T",
"hgvs_p": "p.Arg505Leu",
"transcript": "XM_017001777.2",
"protein_id": "XP_016857266.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 517,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001777.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1466G>T",
"hgvs_p": "p.Arg489Leu",
"transcript": "XM_047425125.1",
"protein_id": "XP_047281081.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 501,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425125.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1463G>T",
"hgvs_p": "p.Arg488Leu",
"transcript": "XM_047425126.1",
"protein_id": "XP_047281082.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 500,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425126.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1439G>T",
"hgvs_p": "p.Arg480Leu",
"transcript": "XM_047425128.1",
"protein_id": "XP_047281084.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 492,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425128.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "XM_047425133.1",
"protein_id": "XP_047281089.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 491,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425133.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1304G>T",
"hgvs_p": "p.Arg435Leu",
"transcript": "XM_047425134.1",
"protein_id": "XP_047281090.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 447,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425134.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.1277G>T",
"hgvs_p": "p.Arg426Leu",
"transcript": "XM_047425135.1",
"protein_id": "XP_047281091.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 438,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425135.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.947G>T",
"hgvs_p": "p.Arg316Leu",
"transcript": "XM_005245325.5",
"protein_id": "XP_005245382.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 328,
"cds_start": 947,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245325.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.785G>T",
"hgvs_p": "p.Arg262Leu",
"transcript": "XM_047425138.1",
"protein_id": "XP_047281094.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 274,
"cds_start": 785,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425138.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "ENST00000497067.1",
"protein_id": "ENSP00000451524.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497067.1"
}
],
"gene_symbol": "MINDY1",
"gene_hgnc_id": 25648,
"dbsnp": "rs374453452",
"frequency_reference_population": 0.00007743824,
"hom_count_reference_population": 0,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.0000814322,
"gnomad_genomes_af": 0.0000394172,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1133493185043335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.2668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.925,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376664.1",
"gene_symbol": "MINDY1",
"hgnc_id": 25648,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu"
}
],
"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
}