← 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: 14-68879987-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=68879987&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 68879987,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394419.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001130004.2",
"protein_id": "NP_001123476.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 914,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000394419.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000394419.9",
"protein_id": "ENSP00000377941.4",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 914,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_001130004.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000538545.6",
"protein_id": "ENSP00000439828.2",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 930,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000193403.11",
"protein_id": "ENSP00000193403.6",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 892,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000438964.6",
"protein_id": "ENSP00000414272.2",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 887,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.3709G>C",
"hgvs_p": null,
"transcript": "ENST00000556083.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000556432.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001424012.1",
"protein_id": "NP_001410941.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 935,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2381G>C",
"hgvs_p": "p.Arg794Pro",
"transcript": "NM_001424013.1",
"protein_id": "NP_001410942.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 934,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001424014.1",
"protein_id": "NP_001410943.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 930,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"transcript": "ENST00000683198.1",
"protein_id": "ENSP00000507889.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 922,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2342G>C",
"hgvs_p": "p.Arg781Pro",
"transcript": "NM_001424015.1",
"protein_id": "NP_001410944.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 921,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000682291.1",
"protein_id": "ENSP00000507093.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 913,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000683342.1",
"protein_id": "ENSP00000508301.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 902,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2711,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"transcript": "NM_001424016.1",
"protein_id": "NP_001410945.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 900,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"transcript": "NM_001411035.1",
"protein_id": "NP_001397964.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 895,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"transcript": "ENST00000679147.1",
"protein_id": "ENSP00000504355.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 895,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001102.4",
"protein_id": "NP_001093.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 892,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2252G>C",
"hgvs_p": "p.Arg751Pro",
"transcript": "NM_001424017.1",
"protein_id": "NP_001410946.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 891,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001130005.2",
"protein_id": "NP_001123477.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 887,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "ENST00000684598.1",
"protein_id": "ENSP00000507785.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 886,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Arg721Pro",
"transcript": "ENST00000684713.1",
"protein_id": "ENSP00000507155.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 883,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2216G>C",
"hgvs_p": "p.Arg739Pro",
"transcript": "NM_001424018.1",
"protein_id": "NP_001410947.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 879,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "NM_001424019.1",
"protein_id": "NP_001410948.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 874,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Arg712Pro",
"transcript": "ENST00000684639.1",
"protein_id": "ENSP00000507653.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 874,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2192G>C",
"hgvs_p": "p.Arg731Pro",
"transcript": "NM_001424020.1",
"protein_id": "NP_001410949.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 871,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2186G>C",
"hgvs_p": "p.Arg729Pro",
"transcript": "NM_001424021.1",
"protein_id": "NP_001410950.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 869,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2192G>C",
"hgvs_p": "p.Arg731Pro",
"transcript": "NM_001424022.1",
"protein_id": "NP_001410951.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 866,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro",
"transcript": "NM_001424023.1",
"protein_id": "NP_001410952.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 865,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "NM_001424024.1",
"protein_id": "NP_001410953.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 853,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "NM_001424025.1",
"protein_id": "NP_001410954.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 831,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "NM_001411036.1",
"protein_id": "NP_001397965.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 827,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "NM_001424026.1",
"protein_id": "NP_001410955.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 827,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "ENST00000684182.1",
"protein_id": "ENSP00000508177.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 827,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "NM_001424027.1",
"protein_id": "NP_001410956.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 826,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "ENST00000682331.1",
"protein_id": "ENSP00000508329.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 826,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "NM_001424028.1",
"protein_id": "NP_001410957.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 822,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "ENST00000376839.7",
"protein_id": "ENSP00000366035.3",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 822,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "ENST00000683225.1",
"protein_id": "ENSP00000506977.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 822,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2072G>C",
"hgvs_p": "p.Arg691Pro",
"transcript": "NM_001424029.1",
"protein_id": "NP_001410958.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 804,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Arg477Pro",
"transcript": "NM_001424030.1",
"protein_id": "NP_001410959.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 617,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Arg281Pro",
"transcript": "ENST00000544964.6",
"protein_id": "ENSP00000444422.2",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 296,
"cds_start": 842,
"cds_end": null,
"cds_length": 891,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.410G>C",
"hgvs_p": "p.Arg137Pro",
"transcript": "ENST00000555075.5",
"protein_id": "ENSP00000452254.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 250,
"cds_start": 410,
"cds_end": null,
"cds_length": 753,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.572G>C",
"hgvs_p": "p.Arg191Pro",
"transcript": "ENST00000553290.1",
"protein_id": "ENSP00000450625.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 205,
"cds_start": 572,
"cds_end": null,
"cds_length": 618,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2360G>C",
"hgvs_p": null,
"transcript": "ENST00000682130.1",
"protein_id": null,
"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": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2628G>C",
"hgvs_p": null,
"transcript": "ENST00000682298.1",
"protein_id": null,
"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": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2543G>C",
"hgvs_p": null,
"transcript": "ENST00000682378.1",
"protein_id": null,
"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": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2543G>C",
"hgvs_p": null,
"transcript": "ENST00000682381.1",
"protein_id": null,
"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": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2144G>C",
"hgvs_p": null,
"transcript": "ENST00000682522.1",
"protein_id": null,
"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": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1708G>C",
"hgvs_p": null,
"transcript": "ENST00000682559.1",
"protein_id": "ENSP00000507271.1",
"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": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2455G>C",
"hgvs_p": null,
"transcript": "ENST00000683069.1",
"protein_id": null,
"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": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1533G>C",
"hgvs_p": null,
"transcript": "ENST00000683267.1",
"protein_id": "ENSP00000508356.1",
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.3101G>C",
"hgvs_p": null,
"transcript": "ENST00000683780.1",
"protein_id": null,
"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": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2543G>C",
"hgvs_p": null,
"transcript": "ENST00000684146.1",
"protein_id": null,
"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": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.1521G>C",
"hgvs_p": null,
"transcript": "ENST00000684287.1",
"protein_id": null,
"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": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.2543G>C",
"hgvs_p": null,
"transcript": "ENST00000684340.1",
"protein_id": null,
"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": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1533G>C",
"hgvs_p": null,
"transcript": "ENST00000684638.1",
"protein_id": "ENSP00000507609.1",
"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": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1708G>C",
"hgvs_p": null,
"transcript": "ENST00000682559.1",
"protein_id": "ENSP00000507271.1",
"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": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1533G>C",
"hgvs_p": null,
"transcript": "ENST00000683267.1",
"protein_id": "ENSP00000508356.1",
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.*1533G>C",
"hgvs_p": null,
"transcript": "ENST00000684638.1",
"protein_id": "ENSP00000507609.1",
"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": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"dbsnp": "rs387907347",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8985617160797119,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.713,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000394419.9",
"gene_symbol": "ACTN1",
"hgnc_id": 163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2255G>C",
"hgvs_p": "p.Arg752Pro"
}
],
"clinvar_disease": "Platelet-type bleeding disorder 15",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Platelet-type bleeding disorder 15",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}