← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-236744695-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236744695&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001103.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_score": -5,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.4072,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1AA,Primary familial hypertrophic cardiomyopathy,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6528000831604004,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001103.4",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366578.6",
"protein_coding": true,
"protein_id": "NP_001094.1",
"strand": true,
"transcript": "NM_001103.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000366578.6",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001103.4",
"protein_coding": true,
"protein_id": "ENSP00000355537.4",
"strand": true,
"transcript": "ENST00000366578.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000542672.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443495.1",
"strand": true,
"transcript": "ENST00000542672.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 931,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 2796,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000879537.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549596.1",
"strand": true,
"transcript": "ENST00000879537.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 931,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 2796,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967370.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637429.1",
"strand": true,
"transcript": "ENST00000967370.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 928,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967362.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637421.1",
"strand": true,
"transcript": "ENST00000967362.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000879533.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549592.1",
"strand": true,
"transcript": "ENST00000879533.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967365.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637424.1",
"strand": true,
"transcript": "ENST00000967365.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879532.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549591.1",
"strand": true,
"transcript": "ENST00000879532.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 2718,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967363.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637422.1",
"strand": true,
"transcript": "ENST00000967363.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967352.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Arg446Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637411.1",
"strand": true,
"transcript": "ENST00000967352.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879534.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1328G>A",
"hgvs_p": "p.Arg443Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549593.1",
"strand": true,
"transcript": "ENST00000879534.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001278343.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265272.1",
"strand": true,
"transcript": "NM_001278343.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879538.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549597.1",
"strand": true,
"transcript": "ENST00000879538.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967348.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637407.1",
"strand": true,
"transcript": "ENST00000967348.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967355.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637414.1",
"strand": true,
"transcript": "ENST00000967355.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 889,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967354.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637413.1",
"strand": true,
"transcript": "ENST00000967354.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967356.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637415.1",
"strand": true,
"transcript": "ENST00000967356.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879535.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Arg435Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549594.1",
"strand": true,
"transcript": "ENST00000879535.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 884,
"aa_ref": "R",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967357.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637416.1",
"strand": true,
"transcript": "ENST00000967357.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879536.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549595.1",
"strand": true,
"transcript": "ENST00000879536.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967360.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637419.1",
"strand": true,
"transcript": "ENST00000967360.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967359.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637418.1",
"strand": true,
"transcript": "ENST00000967359.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 863,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000682015.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506961.1",
"strand": true,
"transcript": "ENST00000682015.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651275.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498926.1",
"strand": true,
"transcript": "ENST00000651275.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4746,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967349.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637408.1",
"strand": true,
"transcript": "ENST00000967349.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967368.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637427.1",
"strand": true,
"transcript": "ENST00000967368.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 838,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879531.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549590.1",
"strand": true,
"transcript": "ENST00000879531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967367.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637426.1",
"strand": true,
"transcript": "ENST00000967367.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 834,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967361.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637420.1",
"strand": true,
"transcript": "ENST00000967361.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967351.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637410.1",
"strand": true,
"transcript": "ENST00000967351.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967353.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637412.1",
"strand": true,
"transcript": "ENST00000967353.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 817,
"aa_ref": "R",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967364.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637423.1",
"strand": true,
"transcript": "ENST00000967364.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967369.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637428.1",
"strand": true,
"transcript": "ENST00000967369.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 2196,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967350.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637409.1",
"strand": true,
"transcript": "ENST00000967350.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 728,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967366.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637425.1",
"strand": true,
"transcript": "ENST00000967366.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967358.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637417.1",
"strand": true,
"transcript": "ENST00000967358.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1764,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000651781.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498394.1",
"strand": true,
"transcript": "ENST00000651781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000492634.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.1255G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492634.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*619G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498677.1",
"strand": true,
"transcript": "ENST00000651091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*697G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498364.1",
"strand": true,
"transcript": "ENST00000651786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*730G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498896.1",
"strand": true,
"transcript": "ENST00000652096.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682692.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.1072G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682692.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682966.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.6966G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*611G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507913.1",
"strand": true,
"transcript": "ENST00000683111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6013,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683322.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.2677G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7299,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684050.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3963G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684050.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000684286.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.2880G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684286.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684502.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.1274G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684502.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_184402.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.1697G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_184402.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*619G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498677.1",
"strand": true,
"transcript": "ENST00000651091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*697G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498364.1",
"strand": true,
"transcript": "ENST00000651786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*730G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498896.1",
"strand": true,
"transcript": "ENST00000652096.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*611G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507913.1",
"strand": true,
"transcript": "ENST00000683111.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs776947613",
"effect": "missense_variant",
"frequency_reference_population": 0.000014869133,
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000150493,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131391,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1AA|Cardiomyopathy|not provided|Cardiovascular phenotype",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.865,
"pos": 236744695,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.178,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001103.4"
}
]
}