← 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: 6-152208032-ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152208032&ref=ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152208032,
"ref": "ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22709_22763delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7570fs",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 7570,
"aa_end": null,
"aa_length": 8797,
"cds_start": 22709,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 23328,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22709_22763delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7570fs",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 7570,
"aa_end": null,
"aa_length": 8797,
"cds_start": 22709,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 23328,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22496_22550delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7499fs",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 7499,
"aa_end": null,
"aa_length": 8749,
"cds_start": 22496,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 23026,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.1475_1529delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu492fs",
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 1654,
"cds_start": 1475,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.6401_6455delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": null,
"transcript": "ENST00000367256.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.6293_6347delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": null,
"transcript": "ENST00000409694.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22496_22550delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7499fs",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 7499,
"aa_end": null,
"aa_length": 8749,
"cds_start": 22496,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 23026,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.647_701delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu216fs",
"transcript": "ENST00000367257.8",
"protein_id": "ENSP00000356226.4",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 1355,
"cds_start": 647,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8846,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 126,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8846,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 23364,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8846,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 23196,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22742_22796delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7581fs",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 7581,
"aa_end": null,
"aa_length": 8845,
"cds_start": 22742,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 23272,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22733_22787delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7578fs",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 7578,
"aa_end": null,
"aa_length": 8842,
"cds_start": 22733,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 23263,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22730_22784delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7577fs",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 7577,
"aa_end": null,
"aa_length": 8841,
"cds_start": 22730,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 23260,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22724_22778delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7575fs",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 7575,
"aa_end": null,
"aa_length": 8839,
"cds_start": 22724,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 23254,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22724_22778delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7575fs",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 7575,
"aa_end": null,
"aa_length": 8839,
"cds_start": 22724,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 23175,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22724_22778delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7575fs",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 7575,
"aa_end": null,
"aa_length": 8839,
"cds_start": 22724,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 23343,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22718_22772delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7573fs",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 7573,
"aa_end": null,
"aa_length": 8837,
"cds_start": 22718,
"cds_end": null,
"cds_length": 26514,
"cdna_start": 22896,
"cdna_end": null,
"cdna_length": 27387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8832,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26499,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22742_22796delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7581fs",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 7581,
"aa_end": null,
"aa_length": 8831,
"cds_start": 22742,
"cds_end": null,
"cds_length": 26496,
"cdna_start": 23272,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22694_22748delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7565fs",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 7565,
"aa_end": null,
"aa_length": 8829,
"cds_start": 22694,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 23224,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22694_22748delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7565fs",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 7565,
"aa_end": null,
"aa_length": 8829,
"cds_start": 22694,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 23313,
"cdna_end": null,
"cdna_length": 27804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22730_22784delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7577fs",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 7577,
"aa_end": null,
"aa_length": 8827,
"cds_start": 22730,
"cds_end": null,
"cds_length": 26484,
"cdna_start": 23260,
"cdna_end": null,
"cdna_length": 27709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8823,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26472,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 123,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22673_22727delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7558fs",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 7558,
"aa_end": null,
"aa_length": 8822,
"cds_start": 22673,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 23203,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22673_22727delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7558fs",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
"transcript_support_level": null,
"aa_start": 7558,
"aa_end": null,
"aa_length": 8822,
"cds_start": 22673,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 23292,
"cdna_end": null,
"cdna_length": 27783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 123,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22667_22721delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7556fs",
"transcript": "XM_017010612.2",
"protein_id": "XP_016866101.1",
"transcript_support_level": null,
"aa_start": 7556,
"aa_end": null,
"aa_length": 8820,
"cds_start": 22667,
"cds_end": null,
"cds_length": 26463,
"cdna_start": 22845,
"cdna_end": null,
"cdna_length": 27336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22730_22784delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7577fs",
"transcript": "XM_047418505.1",
"protein_id": "XP_047274461.1",
"transcript_support_level": null,
"aa_start": 7577,
"aa_end": null,
"aa_length": 8818,
"cds_start": 22730,
"cds_end": null,
"cds_length": 26457,
"cdna_start": 23260,
"cdna_end": null,
"cdna_length": 27682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715415.3",
"protein_id": "XP_006715478.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8809,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26430,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22742_22796delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7581fs",
"transcript": "XM_017010613.2",
"protein_id": "XP_016866102.1",
"transcript_support_level": null,
"aa_start": 7581,
"aa_end": null,
"aa_length": 8808,
"cds_start": 22742,
"cds_end": null,
"cds_length": 26427,
"cdna_start": 23272,
"cdna_end": null,
"cdna_length": 27652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22730_22784delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7577fs",
"transcript": "XM_006715416.3",
"protein_id": "XP_006715479.1",
"transcript_support_level": null,
"aa_start": 7577,
"aa_end": null,
"aa_length": 8804,
"cds_start": 22730,
"cds_end": null,
"cds_length": 26415,
"cdna_start": 23260,
"cdna_end": null,
"cdna_length": 27640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22604_22658delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7535fs",
"transcript": "XM_006715417.3",
"protein_id": "XP_006715480.1",
"transcript_support_level": null,
"aa_start": 7535,
"aa_end": null,
"aa_length": 8799,
"cds_start": 22604,
"cds_end": null,
"cds_length": 26400,
"cdna_start": 23134,
"cdna_end": null,
"cdna_length": 27625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22601_22655delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7534fs",
"transcript": "XM_047418506.1",
"protein_id": "XP_047274462.1",
"transcript_support_level": null,
"aa_start": 7534,
"aa_end": null,
"aa_length": 8798,
"cds_start": 22601,
"cds_end": null,
"cds_length": 26397,
"cdna_start": 23131,
"cdna_end": null,
"cdna_length": 27622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22592_22646delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7531fs",
"transcript": "XM_006715420.3",
"protein_id": "XP_006715483.1",
"transcript_support_level": null,
"aa_start": 7531,
"aa_end": null,
"aa_length": 8795,
"cds_start": 22592,
"cds_end": null,
"cds_length": 26388,
"cdna_start": 23122,
"cdna_end": null,
"cdna_length": 27613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22589_22643delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7530fs",
"transcript": "XM_006715421.3",
"protein_id": "XP_006715484.1",
"transcript_support_level": null,
"aa_start": 7530,
"aa_end": null,
"aa_length": 8794,
"cds_start": 22589,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 23119,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22589_22643delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7530fs",
"transcript": "XM_017010614.2",
"protein_id": "XP_016866103.1",
"transcript_support_level": null,
"aa_start": 7530,
"aa_end": null,
"aa_length": 8794,
"cds_start": 22589,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 23119,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22586_22640delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7529fs",
"transcript": "XM_006715422.2",
"protein_id": "XP_006715485.1",
"transcript_support_level": null,
"aa_start": 7529,
"aa_end": null,
"aa_length": 8793,
"cds_start": 22586,
"cds_end": null,
"cds_length": 26382,
"cdna_start": 23116,
"cdna_end": null,
"cdna_length": 27607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22580_22634delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7527fs",
"transcript": "XM_011535643.2",
"protein_id": "XP_011533945.1",
"transcript_support_level": null,
"aa_start": 7527,
"aa_end": null,
"aa_length": 8791,
"cds_start": 22580,
"cds_end": null,
"cds_length": 26376,
"cdna_start": 23110,
"cdna_end": null,
"cdna_length": 27601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 123,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22565_22619delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7522fs",
"transcript": "XM_047418507.1",
"protein_id": "XP_047274463.1",
"transcript_support_level": null,
"aa_start": 7522,
"aa_end": null,
"aa_length": 8786,
"cds_start": 22565,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 23095,
"cdna_end": null,
"cdna_length": 27586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 123,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22565_22619delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7522fs",
"transcript": "XM_047418508.1",
"protein_id": "XP_047274464.1",
"transcript_support_level": null,
"aa_start": 7522,
"aa_end": null,
"aa_length": 8786,
"cds_start": 22565,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 23016,
"cdna_end": null,
"cdna_length": 27507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22592_22646delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7531fs",
"transcript": "XM_047418509.1",
"protein_id": "XP_047274465.1",
"transcript_support_level": null,
"aa_start": 7531,
"aa_end": null,
"aa_length": 8781,
"cds_start": 22592,
"cds_end": null,
"cds_length": 26346,
"cdna_start": 23122,
"cdna_end": null,
"cdna_length": 27571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 122,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22514_22568delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7505fs",
"transcript": "XM_047418510.1",
"protein_id": "XP_047274466.1",
"transcript_support_level": null,
"aa_start": 7505,
"aa_end": null,
"aa_length": 8769,
"cds_start": 22514,
"cds_end": null,
"cds_length": 26310,
"cdna_start": 23044,
"cdna_end": null,
"cdna_length": 27535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715423.3",
"protein_id": "XP_006715486.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8758,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22592_22646delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7531fs",
"transcript": "XM_047418511.1",
"protein_id": "XP_047274467.1",
"transcript_support_level": null,
"aa_start": 7531,
"aa_end": null,
"aa_length": 8758,
"cds_start": 22592,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 23122,
"cdna_end": null,
"cdna_length": 27502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22589_22643delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7530fs",
"transcript": "XM_017010615.2",
"protein_id": "XP_016866104.1",
"transcript_support_level": null,
"aa_start": 7530,
"aa_end": null,
"aa_length": 8757,
"cds_start": 22589,
"cds_end": null,
"cds_length": 26274,
"cdna_start": 23119,
"cdna_end": null,
"cdna_length": 27499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715424.3",
"protein_id": "XP_006715487.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8744,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26235,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_017010616.2",
"protein_id": "XP_016866105.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8735,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26208,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22745_22799delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7582fs",
"transcript": "XM_006715425.3",
"protein_id": "XP_006715488.1",
"transcript_support_level": null,
"aa_start": 7582,
"aa_end": null,
"aa_length": 8721,
"cds_start": 22745,
"cds_end": null,
"cds_length": 26166,
"cdna_start": 23275,
"cdna_end": null,
"cdna_length": 27596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22742_22796delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7581fs",
"transcript": "XM_017010617.2",
"protein_id": "XP_016866106.1",
"transcript_support_level": null,
"aa_start": 7581,
"aa_end": null,
"aa_length": 8720,
"cds_start": 22742,
"cds_end": null,
"cds_length": 26163,
"cdna_start": 23272,
"cdna_end": null,
"cdna_length": 27593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22730_22784delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7577fs",
"transcript": "XM_017010618.2",
"protein_id": "XP_016866107.1",
"transcript_support_level": null,
"aa_start": 7577,
"aa_end": null,
"aa_length": 8716,
"cds_start": 22730,
"cds_end": null,
"cds_length": 26151,
"cdna_start": 23260,
"cdna_end": null,
"cdna_length": 27581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 144,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22601_22655delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7534fs",
"transcript": "XM_047418512.1",
"protein_id": "XP_047274468.1",
"transcript_support_level": null,
"aa_start": 7534,
"aa_end": null,
"aa_length": 8673,
"cds_start": 22601,
"cds_end": null,
"cds_length": 26022,
"cdna_start": 23131,
"cdna_end": null,
"cdna_length": 27452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 111,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21020_21074delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7007fs",
"transcript": "XM_011535644.2",
"protein_id": "XP_011533946.1",
"transcript_support_level": null,
"aa_start": 7007,
"aa_end": null,
"aa_length": 8271,
"cds_start": 21020,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 21782,
"cdna_end": null,
"cdna_length": 26273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 111,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21020_21074delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7007fs",
"transcript": "XM_017010619.2",
"protein_id": "XP_016866108.1",
"transcript_support_level": null,
"aa_start": 7007,
"aa_end": null,
"aa_length": 8271,
"cds_start": 21020,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 21777,
"cdna_end": null,
"cdna_length": 26268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EMAEKLRKWLVEVSYLPMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 107,
"exon_rank_end": null,
"exon_count": 130,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.20513_20567delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu6838fs",
"transcript": "XM_011535645.3",
"protein_id": "XP_011533947.1",
"transcript_support_level": null,
"aa_start": 6838,
"aa_end": null,
"aa_length": 8102,
"cds_start": 20513,
"cds_end": null,
"cds_length": 24309,
"cdna_start": 20585,
"cdna_end": null,
"cdna_length": 25076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs1554558620",
"frequency_reference_population": 0.0000013681051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.22709_22763delAGATGGCAGAAAAGCTTCGTAAATGGTTGGTTGAAGTGTCCTACCTCCCCATGAG",
"hgvs_p": "p.Glu7570fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}