← 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: 1-236762583-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236762583&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236762583,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001103.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2649G>T",
"hgvs_p": "p.Ala883Ala",
"transcript": "NM_001103.4",
"protein_id": "NP_001094.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 894,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366578.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2649G>T",
"hgvs_p": "p.Ala883Ala",
"transcript": "ENST00000366578.6",
"protein_id": "ENSP00000355537.4",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 894,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366578.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2649G>T",
"hgvs_p": "p.Ala883Ala",
"transcript": "ENST00000542672.7",
"protein_id": "ENSP00000443495.1",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 894,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542672.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2760G>T",
"hgvs_p": "p.Ala920Ala",
"transcript": "ENST00000879537.1",
"protein_id": "ENSP00000549596.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 931,
"cds_start": 2760,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879537.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2760G>T",
"hgvs_p": "p.Ala920Ala",
"transcript": "ENST00000967370.1",
"protein_id": "ENSP00000637429.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 931,
"cds_start": 2760,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967370.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2751G>T",
"hgvs_p": "p.Ala917Ala",
"transcript": "ENST00000967362.1",
"protein_id": "ENSP00000637421.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 928,
"cds_start": 2751,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967362.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2739G>T",
"hgvs_p": "p.Ala913Ala",
"transcript": "ENST00000879533.1",
"protein_id": "ENSP00000549592.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 924,
"cds_start": 2739,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879533.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2694G>T",
"hgvs_p": "p.Ala898Ala",
"transcript": "ENST00000967365.1",
"protein_id": "ENSP00000637424.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 909,
"cds_start": 2694,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967365.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2688G>T",
"hgvs_p": "p.Ala896Ala",
"transcript": "ENST00000879532.1",
"protein_id": "ENSP00000549591.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 907,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879532.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2682G>T",
"hgvs_p": "p.Ala894Ala",
"transcript": "ENST00000967363.1",
"protein_id": "ENSP00000637422.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 905,
"cds_start": 2682,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967363.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2661G>T",
"hgvs_p": "p.Ala887Ala",
"transcript": "ENST00000967352.1",
"protein_id": "ENSP00000637411.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 898,
"cds_start": 2661,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2652G>T",
"hgvs_p": "p.Ala884Ala",
"transcript": "ENST00000879534.1",
"protein_id": "ENSP00000549593.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 895,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879534.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2649G>T",
"hgvs_p": "p.Ala883Ala",
"transcript": "NM_001278343.2",
"protein_id": "NP_001265272.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 894,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278343.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2646G>T",
"hgvs_p": "p.Ala882Ala",
"transcript": "ENST00000879538.1",
"protein_id": "ENSP00000549597.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 893,
"cds_start": 2646,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879538.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2643G>T",
"hgvs_p": "p.Ala881Ala",
"transcript": "ENST00000967348.1",
"protein_id": "ENSP00000637407.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 892,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967348.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2643G>T",
"hgvs_p": "p.Ala881Ala",
"transcript": "ENST00000967355.1",
"protein_id": "ENSP00000637414.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 892,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967355.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2634G>T",
"hgvs_p": "p.Ala878Ala",
"transcript": "ENST00000967354.1",
"protein_id": "ENSP00000637413.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 889,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967354.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2631G>T",
"hgvs_p": "p.Ala877Ala",
"transcript": "ENST00000967356.1",
"protein_id": "ENSP00000637415.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 888,
"cds_start": 2631,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967356.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2628G>T",
"hgvs_p": "p.Ala876Ala",
"transcript": "ENST00000879535.1",
"protein_id": "ENSP00000549594.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 887,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879535.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2619G>T",
"hgvs_p": "p.Ala873Ala",
"transcript": "ENST00000967357.1",
"protein_id": "ENSP00000637416.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 884,
"cds_start": 2619,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967357.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2610G>T",
"hgvs_p": "p.Ala870Ala",
"transcript": "ENST00000879536.1",
"protein_id": "ENSP00000549595.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 881,
"cds_start": 2610,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879536.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2583G>T",
"hgvs_p": "p.Ala861Ala",
"transcript": "ENST00000967360.1",
"protein_id": "ENSP00000637419.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 872,
"cds_start": 2583,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967360.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2562G>T",
"hgvs_p": "p.Ala854Ala",
"transcript": "ENST00000967359.1",
"protein_id": "ENSP00000637418.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 865,
"cds_start": 2562,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967359.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2556G>T",
"hgvs_p": "p.Ala852Ala",
"transcript": "ENST00000682015.1",
"protein_id": "ENSP00000506961.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 863,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682015.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Ala847Ala",
"transcript": "ENST00000651275.1",
"protein_id": "ENSP00000498926.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 858,
"cds_start": 2541,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651275.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2529G>T",
"hgvs_p": "p.Ala843Ala",
"transcript": "ENST00000967349.1",
"protein_id": "ENSP00000637408.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 854,
"cds_start": 2529,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967349.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2508G>T",
"hgvs_p": "p.Ala836Ala",
"transcript": "ENST00000967368.1",
"protein_id": "ENSP00000637427.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 847,
"cds_start": 2508,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967368.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2481G>T",
"hgvs_p": "p.Ala827Ala",
"transcript": "ENST00000879531.1",
"protein_id": "ENSP00000549590.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 838,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879531.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2478G>T",
"hgvs_p": "p.Ala826Ala",
"transcript": "ENST00000967367.1",
"protein_id": "ENSP00000637426.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 837,
"cds_start": 2478,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967367.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2469G>T",
"hgvs_p": "p.Ala823Ala",
"transcript": "ENST00000967361.1",
"protein_id": "ENSP00000637420.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 834,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967361.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2466G>T",
"hgvs_p": "p.Ala822Ala",
"transcript": "ENST00000967351.1",
"protein_id": "ENSP00000637410.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 833,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967351.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2442G>T",
"hgvs_p": "p.Ala814Ala",
"transcript": "ENST00000967353.1",
"protein_id": "ENSP00000637412.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 825,
"cds_start": 2442,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967353.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2418G>T",
"hgvs_p": "p.Ala806Ala",
"transcript": "ENST00000967364.1",
"protein_id": "ENSP00000637423.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 817,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967364.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2400G>T",
"hgvs_p": "p.Ala800Ala",
"transcript": "ENST00000967369.1",
"protein_id": "ENSP00000637428.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 811,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967369.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2160G>T",
"hgvs_p": "p.Ala720Ala",
"transcript": "ENST00000967350.1",
"protein_id": "ENSP00000637409.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 731,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967350.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Ala717Ala",
"transcript": "ENST00000967366.1",
"protein_id": "ENSP00000637425.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 728,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967366.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.2004G>T",
"hgvs_p": "p.Ala668Ala",
"transcript": "ENST00000967358.1",
"protein_id": "ENSP00000637417.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 679,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967358.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1728G>T",
"hgvs_p": "p.Ala576Ala",
"transcript": "ENST00000651781.1",
"protein_id": "ENSP00000498394.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 587,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.945G>T",
"hgvs_p": null,
"transcript": "ENST00000461367.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461367.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.2579G>T",
"hgvs_p": null,
"transcript": "ENST00000492634.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492634.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*1943G>T",
"hgvs_p": null,
"transcript": "ENST00000651091.1",
"protein_id": "ENSP00000498677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*2021G>T",
"hgvs_p": null,
"transcript": "ENST00000651786.1",
"protein_id": "ENSP00000498364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*2054G>T",
"hgvs_p": null,
"transcript": "ENST00000652096.1",
"protein_id": "ENSP00000498896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652096.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.567G>T",
"hgvs_p": null,
"transcript": "ENST00000682490.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000682490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.3744G>T",
"hgvs_p": null,
"transcript": "ENST00000682692.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.8290G>T",
"hgvs_p": null,
"transcript": "ENST00000682966.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682966.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*1935G>T",
"hgvs_p": null,
"transcript": "ENST00000683111.1",
"protein_id": "ENSP00000507913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.4001G>T",
"hgvs_p": null,
"transcript": "ENST00000683322.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.1440G>T",
"hgvs_p": null,
"transcript": "ENST00000683805.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.5287G>T",
"hgvs_p": null,
"transcript": "ENST00000684050.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.2083G>T",
"hgvs_p": null,
"transcript": "ENST00000684122.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.4204G>T",
"hgvs_p": null,
"transcript": "ENST00000684286.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.3946G>T",
"hgvs_p": null,
"transcript": "ENST00000684502.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.1264G>T",
"hgvs_p": null,
"transcript": "ENST00000684763.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.3021G>T",
"hgvs_p": null,
"transcript": "NR_184402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_184402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*1943G>T",
"hgvs_p": null,
"transcript": "ENST00000651091.1",
"protein_id": "ENSP00000498677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*2021G>T",
"hgvs_p": null,
"transcript": "ENST00000651786.1",
"protein_id": "ENSP00000498364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*2054G>T",
"hgvs_p": null,
"transcript": "ENST00000652096.1",
"protein_id": "ENSP00000498896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652096.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "n.*1935G>T",
"hgvs_p": null,
"transcript": "ENST00000683111.1",
"protein_id": "ENSP00000507913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683111.1"
}
],
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"dbsnp": "rs146426213",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.245,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001103.4",
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2649G>T",
"hgvs_p": "p.Ala883Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}