← 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: 6-152224547-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152224547&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152224547,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21469C>T",
"hgvs_p": "p.Arg7157Cys",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 7157,
"aa_end": null,
"aa_length": 8797,
"cds_start": 21469,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 22034,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21469C>T",
"hgvs_p": "p.Arg7157Cys",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 7157,
"aa_end": null,
"aa_length": 8797,
"cds_start": 21469,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 22034,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21256C>T",
"hgvs_p": "p.Arg7086Cys",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 7086,
"aa_end": null,
"aa_length": 8749,
"cds_start": 21256,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 21732,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 1654,
"cds_start": 235,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 235,
"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": 32,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.5161C>T",
"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": 30,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.5053C>T",
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21256C>T",
"hgvs_p": "p.Arg7086Cys",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 7086,
"aa_end": null,
"aa_length": 8749,
"cds_start": 21256,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 21732,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 22070,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 21902,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21502C>T",
"hgvs_p": "p.Arg7168Cys",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 7168,
"aa_end": null,
"aa_length": 8845,
"cds_start": 21502,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 21978,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21493C>T",
"hgvs_p": "p.Arg7165Cys",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 7165,
"aa_end": null,
"aa_length": 8842,
"cds_start": 21493,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 21969,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21490C>T",
"hgvs_p": "p.Arg7164Cys",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 7164,
"aa_end": null,
"aa_length": 8841,
"cds_start": 21490,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 21966,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21484C>T",
"hgvs_p": "p.Arg7162Cys",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 7162,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21484,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 21960,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21484C>T",
"hgvs_p": "p.Arg7162Cys",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 7162,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21484,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 21881,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21484C>T",
"hgvs_p": "p.Arg7162Cys",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 7162,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21484,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 22049,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21478C>T",
"hgvs_p": "p.Arg7160Cys",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 7160,
"aa_end": null,
"aa_length": 8837,
"cds_start": 21478,
"cds_end": null,
"cds_length": 26514,
"cdna_start": 21602,
"cdna_end": null,
"cdna_length": 27387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8832,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26499,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21502C>T",
"hgvs_p": "p.Arg7168Cys",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 7168,
"aa_end": null,
"aa_length": 8831,
"cds_start": 21502,
"cds_end": null,
"cds_length": 26496,
"cdna_start": 21978,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21454C>T",
"hgvs_p": "p.Arg7152Cys",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 7152,
"aa_end": null,
"aa_length": 8829,
"cds_start": 21454,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 21930,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21454C>T",
"hgvs_p": "p.Arg7152Cys",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 7152,
"aa_end": null,
"aa_length": 8829,
"cds_start": 21454,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 22019,
"cdna_end": null,
"cdna_length": 27804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21490C>T",
"hgvs_p": "p.Arg7164Cys",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 7164,
"aa_end": null,
"aa_length": 8827,
"cds_start": 21490,
"cds_end": null,
"cds_length": 26484,
"cdna_start": 21966,
"cdna_end": null,
"cdna_length": 27709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8823,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26472,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21433C>T",
"hgvs_p": "p.Arg7145Cys",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 7145,
"aa_end": null,
"aa_length": 8822,
"cds_start": 21433,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 21909,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21433C>T",
"hgvs_p": "p.Arg7145Cys",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
"transcript_support_level": null,
"aa_start": 7145,
"aa_end": null,
"aa_length": 8822,
"cds_start": 21433,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 21998,
"cdna_end": null,
"cdna_length": 27783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21427C>T",
"hgvs_p": "p.Arg7143Cys",
"transcript": "XM_017010612.2",
"protein_id": "XP_016866101.1",
"transcript_support_level": null,
"aa_start": 7143,
"aa_end": null,
"aa_length": 8820,
"cds_start": 21427,
"cds_end": null,
"cds_length": 26463,
"cdna_start": 21551,
"cdna_end": null,
"cdna_length": 27336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21490C>T",
"hgvs_p": "p.Arg7164Cys",
"transcript": "XM_047418505.1",
"protein_id": "XP_047274461.1",
"transcript_support_level": null,
"aa_start": 7164,
"aa_end": null,
"aa_length": 8818,
"cds_start": 21490,
"cds_end": null,
"cds_length": 26457,
"cdna_start": 21966,
"cdna_end": null,
"cdna_length": 27682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715415.3",
"protein_id": "XP_006715478.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8809,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26430,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21502C>T",
"hgvs_p": "p.Arg7168Cys",
"transcript": "XM_017010613.2",
"protein_id": "XP_016866102.1",
"transcript_support_level": null,
"aa_start": 7168,
"aa_end": null,
"aa_length": 8808,
"cds_start": 21502,
"cds_end": null,
"cds_length": 26427,
"cdna_start": 21978,
"cdna_end": null,
"cdna_length": 27652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21490C>T",
"hgvs_p": "p.Arg7164Cys",
"transcript": "XM_006715416.3",
"protein_id": "XP_006715479.1",
"transcript_support_level": null,
"aa_start": 7164,
"aa_end": null,
"aa_length": 8804,
"cds_start": 21490,
"cds_end": null,
"cds_length": 26415,
"cdna_start": 21966,
"cdna_end": null,
"cdna_length": 27640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21364C>T",
"hgvs_p": "p.Arg7122Cys",
"transcript": "XM_006715417.3",
"protein_id": "XP_006715480.1",
"transcript_support_level": null,
"aa_start": 7122,
"aa_end": null,
"aa_length": 8799,
"cds_start": 21364,
"cds_end": null,
"cds_length": 26400,
"cdna_start": 21840,
"cdna_end": null,
"cdna_length": 27625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21361C>T",
"hgvs_p": "p.Arg7121Cys",
"transcript": "XM_047418506.1",
"protein_id": "XP_047274462.1",
"transcript_support_level": null,
"aa_start": 7121,
"aa_end": null,
"aa_length": 8798,
"cds_start": 21361,
"cds_end": null,
"cds_length": 26397,
"cdna_start": 21837,
"cdna_end": null,
"cdna_length": 27622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21352C>T",
"hgvs_p": "p.Arg7118Cys",
"transcript": "XM_006715420.3",
"protein_id": "XP_006715483.1",
"transcript_support_level": null,
"aa_start": 7118,
"aa_end": null,
"aa_length": 8795,
"cds_start": 21352,
"cds_end": null,
"cds_length": 26388,
"cdna_start": 21828,
"cdna_end": null,
"cdna_length": 27613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21349C>T",
"hgvs_p": "p.Arg7117Cys",
"transcript": "XM_006715421.3",
"protein_id": "XP_006715484.1",
"transcript_support_level": null,
"aa_start": 7117,
"aa_end": null,
"aa_length": 8794,
"cds_start": 21349,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 21825,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21349C>T",
"hgvs_p": "p.Arg7117Cys",
"transcript": "XM_017010614.2",
"protein_id": "XP_016866103.1",
"transcript_support_level": null,
"aa_start": 7117,
"aa_end": null,
"aa_length": 8794,
"cds_start": 21349,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 21825,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21346C>T",
"hgvs_p": "p.Arg7116Cys",
"transcript": "XM_006715422.2",
"protein_id": "XP_006715485.1",
"transcript_support_level": null,
"aa_start": 7116,
"aa_end": null,
"aa_length": 8793,
"cds_start": 21346,
"cds_end": null,
"cds_length": 26382,
"cdna_start": 21822,
"cdna_end": null,
"cdna_length": 27607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21340C>T",
"hgvs_p": "p.Arg7114Cys",
"transcript": "XM_011535643.2",
"protein_id": "XP_011533945.1",
"transcript_support_level": null,
"aa_start": 7114,
"aa_end": null,
"aa_length": 8791,
"cds_start": 21340,
"cds_end": null,
"cds_length": 26376,
"cdna_start": 21816,
"cdna_end": null,
"cdna_length": 27601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21325C>T",
"hgvs_p": "p.Arg7109Cys",
"transcript": "XM_047418507.1",
"protein_id": "XP_047274463.1",
"transcript_support_level": null,
"aa_start": 7109,
"aa_end": null,
"aa_length": 8786,
"cds_start": 21325,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 21801,
"cdna_end": null,
"cdna_length": 27586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21325C>T",
"hgvs_p": "p.Arg7109Cys",
"transcript": "XM_047418508.1",
"protein_id": "XP_047274464.1",
"transcript_support_level": null,
"aa_start": 7109,
"aa_end": null,
"aa_length": 8786,
"cds_start": 21325,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 21722,
"cdna_end": null,
"cdna_length": 27507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21352C>T",
"hgvs_p": "p.Arg7118Cys",
"transcript": "XM_047418509.1",
"protein_id": "XP_047274465.1",
"transcript_support_level": null,
"aa_start": 7118,
"aa_end": null,
"aa_length": 8781,
"cds_start": 21352,
"cds_end": null,
"cds_length": 26346,
"cdna_start": 21828,
"cdna_end": null,
"cdna_length": 27571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 114,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21274C>T",
"hgvs_p": "p.Arg7092Cys",
"transcript": "XM_047418510.1",
"protein_id": "XP_047274466.1",
"transcript_support_level": null,
"aa_start": 7092,
"aa_end": null,
"aa_length": 8769,
"cds_start": 21274,
"cds_end": null,
"cds_length": 26310,
"cdna_start": 21750,
"cdna_end": null,
"cdna_length": 27535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715423.3",
"protein_id": "XP_006715486.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8758,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21352C>T",
"hgvs_p": "p.Arg7118Cys",
"transcript": "XM_047418511.1",
"protein_id": "XP_047274467.1",
"transcript_support_level": null,
"aa_start": 7118,
"aa_end": null,
"aa_length": 8758,
"cds_start": 21352,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 21828,
"cdna_end": null,
"cdna_length": 27502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21349C>T",
"hgvs_p": "p.Arg7117Cys",
"transcript": "XM_017010615.2",
"protein_id": "XP_016866104.1",
"transcript_support_level": null,
"aa_start": 7117,
"aa_end": null,
"aa_length": 8757,
"cds_start": 21349,
"cds_end": null,
"cds_length": 26274,
"cdna_start": 21825,
"cdna_end": null,
"cdna_length": 27499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715424.3",
"protein_id": "XP_006715487.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8744,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26235,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_017010616.2",
"protein_id": "XP_016866105.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8735,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26208,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21505C>T",
"hgvs_p": "p.Arg7169Cys",
"transcript": "XM_006715425.3",
"protein_id": "XP_006715488.1",
"transcript_support_level": null,
"aa_start": 7169,
"aa_end": null,
"aa_length": 8721,
"cds_start": 21505,
"cds_end": null,
"cds_length": 26166,
"cdna_start": 21981,
"cdna_end": null,
"cdna_length": 27596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21502C>T",
"hgvs_p": "p.Arg7168Cys",
"transcript": "XM_017010617.2",
"protein_id": "XP_016866106.1",
"transcript_support_level": null,
"aa_start": 7168,
"aa_end": null,
"aa_length": 8720,
"cds_start": 21502,
"cds_end": null,
"cds_length": 26163,
"cdna_start": 21978,
"cdna_end": null,
"cdna_length": 27593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 117,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21490C>T",
"hgvs_p": "p.Arg7164Cys",
"transcript": "XM_017010618.2",
"protein_id": "XP_016866107.1",
"transcript_support_level": null,
"aa_start": 7164,
"aa_end": null,
"aa_length": 8716,
"cds_start": 21490,
"cds_end": null,
"cds_length": 26151,
"cdna_start": 21966,
"cdna_end": null,
"cdna_length": 27581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 144,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21361C>T",
"hgvs_p": "p.Arg7121Cys",
"transcript": "XM_047418512.1",
"protein_id": "XP_047274468.1",
"transcript_support_level": null,
"aa_start": 7121,
"aa_end": null,
"aa_length": 8673,
"cds_start": 21361,
"cds_end": null,
"cds_length": 26022,
"cdna_start": 21837,
"cdna_end": null,
"cdna_length": 27452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.19780C>T",
"hgvs_p": "p.Arg6594Cys",
"transcript": "XM_011535644.2",
"protein_id": "XP_011533946.1",
"transcript_support_level": null,
"aa_start": 6594,
"aa_end": null,
"aa_length": 8271,
"cds_start": 19780,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 20488,
"cdna_end": null,
"cdna_length": 26273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.19780C>T",
"hgvs_p": "p.Arg6594Cys",
"transcript": "XM_017010619.2",
"protein_id": "XP_016866108.1",
"transcript_support_level": null,
"aa_start": 6594,
"aa_end": null,
"aa_length": 8271,
"cds_start": 19780,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 20483,
"cdna_end": null,
"cdna_length": 26268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 130,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.19273C>T",
"hgvs_p": "p.Arg6425Cys",
"transcript": "XM_011535645.3",
"protein_id": "XP_011533947.1",
"transcript_support_level": null,
"aa_start": 6425,
"aa_end": null,
"aa_length": 8102,
"cds_start": 19273,
"cds_end": null,
"cds_length": 24309,
"cdna_start": 19291,
"cdna_end": null,
"cdna_length": 25076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs757688642",
"frequency_reference_population": 0.000020447897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000143661,
"gnomad_genomes_af": 0.0000789017,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19385185837745667,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.0857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.437,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.21469C>T",
"hgvs_p": "p.Arg7157Cys"
}
],
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}