← 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: 1-236754037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236754037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001103.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 237,
"alphamissense_prediction": null,
"alphamissense_score": 0.071,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 6, adult-onset, autosomal dominant, congenital, distal, with structured cores and z-line abnormalities,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1AA,Myopathy,Primary familial hypertrophic cardiomyopathy,Tetralogy of Fallot,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33200591802597046,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001103.4",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000366578.6",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000542672.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 931,
"aa_ref": "A",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000879537.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Ala681Thr",
"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": "T",
"aa_end": null,
"aa_length": 931,
"aa_ref": "A",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967370.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Ala681Thr",
"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": "T",
"aa_end": null,
"aa_length": 928,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967362.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Ala678Thr",
"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": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "A",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000879533.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Ala674Thr",
"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": "T",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967365.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 907,
"aa_ref": "A",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1969,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879532.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Ala657Thr",
"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": "T",
"aa_end": null,
"aa_length": 905,
"aa_ref": "A",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2718,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967363.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Ala655Thr",
"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": "T",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967352.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Ala648Thr",
"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": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "A",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879534.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Ala645Thr",
"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": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001278343.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 893,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879538.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 892,
"aa_ref": "A",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967348.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Ala642Thr",
"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": "T",
"aa_end": null,
"aa_length": 892,
"aa_ref": "A",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967355.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Ala642Thr",
"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": "T",
"aa_end": null,
"aa_length": 889,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967354.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"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": "T",
"aa_end": null,
"aa_length": 888,
"aa_ref": "A",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967356.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Ala638Thr",
"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": "T",
"aa_end": null,
"aa_length": 887,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1909,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879535.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1909G>A",
"hgvs_p": "p.Ala637Thr",
"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": "T",
"aa_end": null,
"aa_length": 884,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967357.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1900G>A",
"hgvs_p": "p.Ala634Thr",
"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": "T",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879536.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Ala631Thr",
"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": "T",
"aa_end": null,
"aa_length": 872,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967360.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 865,
"aa_ref": "A",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1843,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967359.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Ala615Thr",
"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": "T",
"aa_end": null,
"aa_length": 863,
"aa_ref": "A",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682015.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Ala613Thr",
"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": "T",
"aa_end": null,
"aa_length": 858,
"aa_ref": "A",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000651275.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1822G>A",
"hgvs_p": "p.Ala608Thr",
"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": "T",
"aa_end": null,
"aa_length": 854,
"aa_ref": "A",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4746,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967349.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Ala604Thr",
"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": "T",
"aa_end": null,
"aa_length": 847,
"aa_ref": "A",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967368.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"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": "T",
"aa_end": null,
"aa_length": 838,
"aa_ref": "A",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000879531.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Ala588Thr",
"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": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967367.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Ala588Thr",
"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": "T",
"aa_end": null,
"aa_length": 834,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967361.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"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": "T",
"aa_end": null,
"aa_length": 833,
"aa_ref": "A",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967351.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"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": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967353.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Ala575Thr",
"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": "T",
"aa_end": null,
"aa_length": 817,
"aa_ref": "A",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1699,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967364.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"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": "T",
"aa_end": null,
"aa_length": 811,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967369.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1681G>A",
"hgvs_p": "p.Ala561Thr",
"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": "T",
"aa_end": null,
"aa_length": 731,
"aa_ref": "A",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967350.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Ala481Thr",
"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": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "A",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651781.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"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": 728,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": null,
"cds_end": null,
"cds_length": 2187,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967366.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1657-3449G>A",
"hgvs_p": null,
"intron_rank": 14,
"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": null,
"aa_end": null,
"aa_length": 679,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": null,
"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967358.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1656+4773G>A",
"hgvs_p": null,
"intron_rank": 14,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461367.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.226G>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": "ENST00000461367.2",
"transcript_support_level": 3
},
{
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000492634.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.1860G>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": 13,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1224G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1302G>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": 18,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1335G>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": 12,
"exon_rank_end": null,
"feature": "ENST00000682692.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3025G>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": 13,
"exon_rank_end": null,
"feature": "ENST00000682966.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.7571G>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": 14,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1216G>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": 8,
"exon_rank_end": null,
"feature": "ENST00000683322.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3282G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000684050.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.4568G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000684286.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3485G>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": 14,
"exon_rank_end": null,
"feature": "ENST00000684502.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3227G>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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684763.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.545G>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": "ENST00000684763.1",
"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": 18,
"exon_rank_end": null,
"feature": "NR_184402.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.2302G>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": 13,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1224G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1302G>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": 18,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1335G>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": 14,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1216G>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": 3452,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683805.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.-217G>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": "ENST00000683805.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146164600",
"effect": "missense_variant",
"frequency_reference_population": 0.0001468416,
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"gnomad_exomes_ac": 216,
"gnomad_exomes_af": 0.000147767,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 21,
"gnomad_genomes_af": 0.000137958,
"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": "not specified|Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Tetralogy of Fallot|not provided|Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA;Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.021,
"pos": 236754037,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.155,
"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"
}
]
}