← 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: 1-236757512-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236757512&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001103.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001103.4",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000366578.6",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000542672.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 931,
"aa_ref": "L",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2292,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000879537.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2292G>A",
"hgvs_p": "p.Leu764Leu",
"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": "L",
"aa_end": null,
"aa_length": 931,
"aa_ref": "L",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2292,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967370.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2292G>A",
"hgvs_p": "p.Leu764Leu",
"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": "L",
"aa_end": null,
"aa_length": 928,
"aa_ref": "L",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2458,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2283,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967362.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2283G>A",
"hgvs_p": "p.Leu761Leu",
"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": "L",
"aa_end": null,
"aa_length": 924,
"aa_ref": "L",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2446,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2271,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000879533.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2271G>A",
"hgvs_p": "p.Leu757Leu",
"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": "L",
"aa_end": null,
"aa_length": 909,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967365.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 907,
"aa_ref": "L",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2220,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879532.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2220G>A",
"hgvs_p": "p.Leu740Leu",
"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": "L",
"aa_end": null,
"aa_length": 905,
"aa_ref": "L",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2214,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967363.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2214G>A",
"hgvs_p": "p.Leu738Leu",
"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": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "L",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2193,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967352.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2193G>A",
"hgvs_p": "p.Leu731Leu",
"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": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "L",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2184,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879534.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2184G>A",
"hgvs_p": "p.Leu728Leu",
"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": "L",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001278343.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 893,
"aa_ref": "L",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2178,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879538.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2178G>A",
"hgvs_p": "p.Leu726Leu",
"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": "L",
"aa_end": null,
"aa_length": 892,
"aa_ref": "L",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2175,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967348.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2175G>A",
"hgvs_p": "p.Leu725Leu",
"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": "L",
"aa_end": null,
"aa_length": 892,
"aa_ref": "L",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2175,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967355.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2175G>A",
"hgvs_p": "p.Leu725Leu",
"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": "L",
"aa_end": null,
"aa_length": 889,
"aa_ref": "L",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2166,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967354.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2166G>A",
"hgvs_p": "p.Leu722Leu",
"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": "L",
"aa_end": null,
"aa_length": 888,
"aa_ref": "L",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2163,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967356.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2163G>A",
"hgvs_p": "p.Leu721Leu",
"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": "L",
"aa_end": null,
"aa_length": 887,
"aa_ref": "L",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2160,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879535.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2160G>A",
"hgvs_p": "p.Leu720Leu",
"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": "L",
"aa_end": null,
"aa_length": 884,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2151,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967357.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2151G>A",
"hgvs_p": "p.Leu717Leu",
"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": "L",
"aa_end": null,
"aa_length": 881,
"aa_ref": "L",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2142,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879536.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2142G>A",
"hgvs_p": "p.Leu714Leu",
"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": "L",
"aa_end": null,
"aa_length": 872,
"aa_ref": "L",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2181,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967360.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"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": "L",
"aa_end": null,
"aa_length": 865,
"aa_ref": "L",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2094,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967359.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2094G>A",
"hgvs_p": "p.Leu698Leu",
"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": "L",
"aa_end": null,
"aa_length": 863,
"aa_ref": "L",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2088,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682015.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Leu696Leu",
"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": "L",
"aa_end": null,
"aa_length": 858,
"aa_ref": "L",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2073,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000651275.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2073G>A",
"hgvs_p": "p.Leu691Leu",
"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": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "L",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4746,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967349.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Leu687Leu",
"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": "L",
"aa_end": null,
"aa_length": 847,
"aa_ref": "L",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2040,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967368.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2040G>A",
"hgvs_p": "p.Leu680Leu",
"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": "L",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879531.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Leu671Leu",
"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": "L",
"aa_end": null,
"aa_length": 837,
"aa_ref": "L",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2010,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967367.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2010G>A",
"hgvs_p": "p.Leu670Leu",
"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": "L",
"aa_end": null,
"aa_length": 834,
"aa_ref": "L",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967361.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Leu667Leu",
"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": "L",
"aa_end": null,
"aa_length": 833,
"aa_ref": "L",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1998,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967351.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1998G>A",
"hgvs_p": "p.Leu666Leu",
"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": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1974,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967353.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Leu658Leu",
"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": "L",
"aa_end": null,
"aa_length": 817,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1950,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967364.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Leu650Leu",
"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": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "L",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1932,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967369.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1932G>A",
"hgvs_p": "p.Leu644Leu",
"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": "L",
"aa_end": null,
"aa_length": 731,
"aa_ref": "L",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967350.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Leu564Leu",
"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": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "L",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1683,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967366.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1683G>A",
"hgvs_p": "p.Leu561Leu",
"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": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "L",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651781.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Leu420Leu",
"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": 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.1657-2212G>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": 3,
"exon_rank_end": null,
"feature": "ENST00000461367.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.477G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000492634.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.2111G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1475G>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": 17,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1553G>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": 20,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1586G>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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682490.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.99G>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": "ENST00000682490.1",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000682692.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3276G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000682966.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.7822G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1467G>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": 10,
"exon_rank_end": null,
"feature": "ENST00000683322.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3533G>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": 3452,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683805.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.972G>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
},
{
"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": 17,
"exon_rank_end": null,
"feature": "ENST00000684050.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.4819G>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": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684122.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.328G>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": "ENST00000684122.1",
"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": 18,
"exon_rank_end": null,
"feature": "ENST00000684286.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3736G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000684502.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.3478G>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": 4,
"exon_rank_end": null,
"feature": "ENST00000684763.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.796G>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": 20,
"exon_rank_end": null,
"feature": "NR_184402.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.2553G>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": 15,
"exon_rank_end": null,
"feature": "ENST00000651091.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1475G>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": 17,
"exon_rank_end": null,
"feature": "ENST00000651786.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1553G>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": 20,
"exon_rank_end": null,
"feature": "ENST00000652096.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1586G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000683111.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "n.*1467G>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": "rs878854173",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.353,
"pos": 236757512,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"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"
}
]
}