← 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: 18-34875261-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34875261&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34875261,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000444659.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589His",
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 770,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589His",
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": 589,
"aa_end": null,
"aa_length": 770,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 724,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 690,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000591182.5",
"protein_id": "ENSP00000467720.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 391,
"cds_start": 629,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589His",
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 770,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589His",
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 770,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 743,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 743,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 724,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 724,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386754.1",
"protein_id": "NP_001373683.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386755.1",
"protein_id": "NP_001373684.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386756.1",
"protein_id": "NP_001373685.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386757.1",
"protein_id": "NP_001373686.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386758.1",
"protein_id": "NP_001373687.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "NM_001386759.1",
"protein_id": "NP_001373688.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "ENST00000680822.1",
"protein_id": "ENSP00000505718.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "ENST00000684266.1",
"protein_id": "ENSP00000507106.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"transcript": "NM_001386760.1",
"protein_id": "NP_001373689.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 712,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "NM_001198939.2",
"protein_id": "NP_001185868.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 690,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "NM_001386761.1",
"protein_id": "NP_001373690.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "NM_032975.4",
"protein_id": "NP_116757.2",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "ENST00000683379.1",
"protein_id": "ENSP00000507995.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "ENST00000684359.1",
"protein_id": "ENSP00000507300.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504His",
"transcript": "NM_001386762.1",
"protein_id": "NP_001373691.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 685,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001198940.2",
"protein_id": "NP_001185869.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386763.1",
"protein_id": "NP_001373692.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386764.1",
"protein_id": "NP_001373693.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386765.1",
"protein_id": "NP_001373694.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386766.1",
"protein_id": "NP_001373695.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001386767.1",
"protein_id": "NP_001373696.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000283365.14",
"protein_id": "ENSP00000283365.10",
"transcript_support_level": 5,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000681241.1",
"protein_id": "ENSP00000506495.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000683705.1",
"protein_id": "ENSP00000507911.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "NM_001386768.1",
"protein_id": "NP_001373697.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "NM_001386769.1",
"protein_id": "NP_001373698.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "ENST00000681470.1",
"protein_id": "ENSP00000505722.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000684377.1",
"protein_id": "ENSP00000506757.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 618,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436His",
"transcript": "ENST00000680767.2",
"protein_id": "ENSP00000505379.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 617,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "NM_001198942.1",
"protein_id": "NP_001185871.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 452,
"cds_start": 812,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "ENST00000269192.11",
"protein_id": "ENSP00000269192.7",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 452,
"cds_start": 812,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "NM_001198943.1",
"protein_id": "NP_001185872.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 433,
"cds_start": 755,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241His",
"transcript": "ENST00000682129.1",
"protein_id": "ENSP00000506763.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 422,
"cds_start": 722,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000681759.1",
"protein_id": "ENSP00000506633.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 403,
"cds_start": 665,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "NM_001198944.1",
"protein_id": "NP_001185873.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 395,
"cds_start": 641,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000556414.7",
"protein_id": "ENSP00000452255.2",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 395,
"cds_start": 641,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "NM_032980.4",
"protein_id": "NP_116762.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 391,
"cds_start": 629,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184His",
"transcript": "ENST00000601125.5",
"protein_id": "ENSP00000470247.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 365,
"cds_start": 551,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "XM_047437316.1",
"protein_id": "XP_047293272.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 788,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "XM_047437317.1",
"protein_id": "XP_047293273.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 787,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "XM_047437318.1",
"protein_id": "XP_047293274.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 761,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Arg538His",
"transcript": "XM_047437319.1",
"protein_id": "XP_047293275.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 760,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "XM_017025575.3",
"protein_id": "XP_016881064.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 754,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "XM_047437320.1",
"protein_id": "XP_047293276.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 754,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "XM_047437321.1",
"protein_id": "XP_047293277.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 747,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "XM_047437340.1",
"protein_id": "XP_047293296.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 746,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "XM_047437322.1",
"protein_id": "XP_047293278.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 743,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "XM_047437323.1",
"protein_id": "XP_047293279.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 731,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "XM_047437324.1",
"protein_id": "XP_047293280.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 724,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "XM_047437325.1",
"protein_id": "XP_047293281.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 723,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "XM_047437326.1",
"protein_id": "XP_047293282.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 716,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 6590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "XM_047437327.1",
"protein_id": "XP_047293283.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 713,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"transcript": "XM_047437328.1",
"protein_id": "XP_047293284.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 712,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 6578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "XM_047437329.1",
"protein_id": "XP_047293285.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 709,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "XM_047437330.1",
"protein_id": "XP_047293286.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "XM_047437331.1",
"protein_id": "XP_047293287.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "XM_047437332.1",
"protein_id": "XP_047293288.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 683,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 6704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "XM_047437333.1",
"protein_id": "XP_047293289.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 6489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "XM_047437334.1",
"protein_id": "XP_047293290.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000590831.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*1606G>A",
"hgvs_p": null,
"transcript": "ENST00000679372.1",
"protein_id": "ENSP00000506098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*1606G>A",
"hgvs_p": null,
"transcript": "ENST00000679372.1",
"protein_id": "ENSP00000506098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"dbsnp": "rs200246467",
"frequency_reference_population": 0.00017597059,
"hom_count_reference_population": 0,
"allele_count_reference_population": 284,
"gnomad_exomes_af": 0.000182664,
"gnomad_genomes_af": 0.000111692,
"gnomad_exomes_ac": 267,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0597001314163208,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.1636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.118,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000444659.6",
"gene_symbol": "DTNA",
"hgnc_id": 3057,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589His"
}
],
"clinvar_disease": "Left ventricular noncompaction 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "not specified|not provided|Left ventricular noncompaction 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}