← 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: 6-152284000-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152284000&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"hgvs_c": "c.18185C>T",
"hgvs_p": "p.Ser6062Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_182961.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1499,
"alphamissense_prediction": null,
"alphamissense_score": 0.0981,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008905678987503052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "S",
"aa_start": 6062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 18750,
"cds_end": null,
"cds_length": 26394,
"cds_start": 18185,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18185C>T",
"hgvs_p": "p.Ser6062Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367255.10",
"protein_coding": true,
"protein_id": "NP_892006.3",
"strand": false,
"transcript": "NM_182961.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "S",
"aa_start": 6062,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 18750,
"cds_end": null,
"cds_length": 26394,
"cds_start": 18185,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18185C>T",
"hgvs_p": "p.Ser6062Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182961.4",
"protein_coding": true,
"protein_id": "ENSP00000356224.5",
"strand": false,
"transcript": "ENST00000367255.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "S",
"aa_start": 5991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 18448,
"cds_end": null,
"cds_length": 26250,
"cds_start": 17972,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.17972C>T",
"hgvs_p": "p.Ser5991Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396024.1",
"strand": false,
"transcript": "ENST00000423061.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.1877C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000367256.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 59,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.1769C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409694.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000489156.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.916C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000489156.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "S",
"aa_start": 5991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 18448,
"cds_end": null,
"cds_length": 26250,
"cds_start": 17972,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.17972C>T",
"hgvs_p": "p.Ser5991Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149062.2",
"strand": false,
"transcript": "NM_033071.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 241,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": 758,
"cds_end": null,
"cds_length": 728,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000540663.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ser237Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437411.1",
"strand": false,
"transcript": "ENST00000540663.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715470.1",
"strand": false,
"transcript": "XM_006715407.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 18783,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 149,
"exon_rank": 97,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866097.1",
"strand": false,
"transcript": "XM_017010608.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27687,
"cdna_start": 18615,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_017010609.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866098.1",
"strand": false,
"transcript": "XM_017010609.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8845,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27763,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26538,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_011535641.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533943.1",
"strand": false,
"transcript": "XM_011535641.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8842,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27754,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26529,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715408.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715471.1",
"strand": false,
"transcript": "XM_006715408.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8841,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27751,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26526,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_011535642.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533944.1",
"strand": false,
"transcript": "XM_011535642.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "S",
"aa_start": 6066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27745,
"cdna_start": 18673,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18197,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715409.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18197C>T",
"hgvs_p": "p.Ser6066Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715472.1",
"strand": false,
"transcript": "XM_006715409.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "S",
"aa_start": 6066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27666,
"cdna_start": 18594,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18197,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_017010610.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18197C>T",
"hgvs_p": "p.Ser6066Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866099.1",
"strand": false,
"transcript": "XM_017010610.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "S",
"aa_start": 6066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27834,
"cdna_start": 18762,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18197,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_047418501.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18197C>T",
"hgvs_p": "p.Ser6066Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274457.1",
"strand": false,
"transcript": "XM_047418501.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8837,
"aa_ref": "S",
"aa_start": 6064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27387,
"cdna_start": 18315,
"cds_end": null,
"cds_length": 26514,
"cds_start": 18191,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_017010611.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18191C>T",
"hgvs_p": "p.Ser6064Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866100.1",
"strand": false,
"transcript": "XM_017010611.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8832,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27724,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26499,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715410.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715473.1",
"strand": false,
"transcript": "XM_006715410.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8831,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27721,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26496,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_047418502.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274458.1",
"strand": false,
"transcript": "XM_047418502.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8829,
"aa_ref": "S",
"aa_start": 6056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27715,
"cdna_start": 18643,
"cds_end": null,
"cds_length": 26490,
"cds_start": 18167,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715411.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18167C>T",
"hgvs_p": "p.Ser6056Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715474.1",
"strand": false,
"transcript": "XM_006715411.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8829,
"aa_ref": "S",
"aa_start": 6056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27804,
"cdna_start": 18732,
"cds_end": null,
"cds_length": 26490,
"cds_start": 18167,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_047418503.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18167C>T",
"hgvs_p": "p.Ser6056Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274459.1",
"strand": false,
"transcript": "XM_047418503.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8827,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27709,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26484,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715412.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715475.1",
"strand": false,
"transcript": "XM_006715412.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8823,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27697,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26472,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715413.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715476.1",
"strand": false,
"transcript": "XM_006715413.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8822,
"aa_ref": "S",
"aa_start": 6049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27694,
"cdna_start": 18622,
"cds_end": null,
"cds_length": 26469,
"cds_start": 18146,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "XM_006715414.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18146C>T",
"hgvs_p": "p.Ser6049Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715477.1",
"strand": false,
"transcript": "XM_006715414.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8822,
"aa_ref": "S",
"aa_start": 6049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27783,
"cdna_start": 18711,
"cds_end": null,
"cds_length": 26469,
"cds_start": 18146,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_047418504.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18146C>T",
"hgvs_p": "p.Ser6049Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274460.1",
"strand": false,
"transcript": "XM_047418504.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8820,
"aa_ref": "S",
"aa_start": 6047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27336,
"cdna_start": 18264,
"cds_end": null,
"cds_length": 26463,
"cds_start": 18140,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "XM_017010612.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18140C>T",
"hgvs_p": "p.Ser6047Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866101.1",
"strand": false,
"transcript": "XM_017010612.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8818,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27682,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26457,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_047418505.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274461.1",
"strand": false,
"transcript": "XM_047418505.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8809,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27655,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26430,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715415.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715478.1",
"strand": false,
"transcript": "XM_006715415.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8808,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27652,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26427,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_017010613.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866102.1",
"strand": false,
"transcript": "XM_017010613.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8804,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27640,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26415,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715416.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715479.1",
"strand": false,
"transcript": "XM_006715416.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8799,
"aa_ref": "S",
"aa_start": 6026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27625,
"cdna_start": 18553,
"cds_end": null,
"cds_length": 26400,
"cds_start": 18077,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715417.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18077C>T",
"hgvs_p": "p.Ser6026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715480.1",
"strand": false,
"transcript": "XM_006715417.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8798,
"aa_ref": "S",
"aa_start": 6026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27622,
"cdna_start": 18553,
"cds_end": null,
"cds_length": 26397,
"cds_start": 18077,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_047418506.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18077C>T",
"hgvs_p": "p.Ser6026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274462.1",
"strand": false,
"transcript": "XM_047418506.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8795,
"aa_ref": "S",
"aa_start": 6022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27613,
"cdna_start": 18541,
"cds_end": null,
"cds_length": 26388,
"cds_start": 18065,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715420.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18065C>T",
"hgvs_p": "p.Ser6022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715483.1",
"strand": false,
"transcript": "XM_006715420.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8794,
"aa_ref": "S",
"aa_start": 6021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27610,
"cdna_start": 18538,
"cds_end": null,
"cds_length": 26385,
"cds_start": 18062,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715421.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18062C>T",
"hgvs_p": "p.Ser6021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715484.1",
"strand": false,
"transcript": "XM_006715421.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8794,
"aa_ref": "S",
"aa_start": 6022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27610,
"cdna_start": 18541,
"cds_end": null,
"cds_length": 26385,
"cds_start": 18065,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_017010614.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18065C>T",
"hgvs_p": "p.Ser6022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866103.1",
"strand": false,
"transcript": "XM_017010614.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8793,
"aa_ref": "S",
"aa_start": 6020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27607,
"cdna_start": 18535,
"cds_end": null,
"cds_length": 26382,
"cds_start": 18059,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_006715422.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18059C>T",
"hgvs_p": "p.Ser6020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715485.1",
"strand": false,
"transcript": "XM_006715422.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8791,
"aa_ref": "S",
"aa_start": 6018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27601,
"cdna_start": 18529,
"cds_end": null,
"cds_length": 26376,
"cds_start": 18053,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_011535643.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18053C>T",
"hgvs_p": "p.Ser6018Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533945.1",
"strand": false,
"transcript": "XM_011535643.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8786,
"aa_ref": "S",
"aa_start": 6013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27586,
"cdna_start": 18514,
"cds_end": null,
"cds_length": 26361,
"cds_start": 18038,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "XM_047418507.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18038C>T",
"hgvs_p": "p.Ser6013Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274463.1",
"strand": false,
"transcript": "XM_047418507.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8786,
"aa_ref": "S",
"aa_start": 6013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27507,
"cdna_start": 18435,
"cds_end": null,
"cds_length": 26361,
"cds_start": 18038,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "XM_047418508.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18038C>T",
"hgvs_p": "p.Ser6013Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274464.1",
"strand": false,
"transcript": "XM_047418508.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8781,
"aa_ref": "S",
"aa_start": 6022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27571,
"cdna_start": 18541,
"cds_end": null,
"cds_length": 26346,
"cds_start": 18065,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_047418509.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18065C>T",
"hgvs_p": "p.Ser6022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274465.1",
"strand": false,
"transcript": "XM_047418509.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8769,
"aa_ref": "S",
"aa_start": 5996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27535,
"cdna_start": 18463,
"cds_end": null,
"cds_length": 26310,
"cds_start": 17987,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "XM_047418510.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.17987C>T",
"hgvs_p": "p.Ser5996Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274466.1",
"strand": false,
"transcript": "XM_047418510.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8758,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27707,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26277,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715423.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715486.1",
"strand": false,
"transcript": "XM_006715423.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8758,
"aa_ref": "S",
"aa_start": 6022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27502,
"cdna_start": 18541,
"cds_end": null,
"cds_length": 26277,
"cds_start": 18065,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_047418511.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18065C>T",
"hgvs_p": "p.Ser6022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274467.1",
"strand": false,
"transcript": "XM_047418511.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8757,
"aa_ref": "S",
"aa_start": 6022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27499,
"cdna_start": 18541,
"cds_end": null,
"cds_length": 26274,
"cds_start": 18065,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_017010615.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18065C>T",
"hgvs_p": "p.Ser6022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866104.1",
"strand": false,
"transcript": "XM_017010615.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8744,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27665,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26235,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715424.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715487.1",
"strand": false,
"transcript": "XM_006715424.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8735,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27638,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26208,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_017010616.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866105.1",
"strand": false,
"transcript": "XM_017010616.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8721,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27596,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26166,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_006715425.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715488.1",
"strand": false,
"transcript": "XM_006715425.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8720,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27593,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 26163,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_017010617.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866106.1",
"strand": false,
"transcript": "XM_017010617.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8716,
"aa_ref": "S",
"aa_start": 6069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27581,
"cdna_start": 18682,
"cds_end": null,
"cds_length": 26151,
"cds_start": 18206,
"consequences": [
"missense_variant"
],
"exon_count": 145,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_017010618.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18206C>T",
"hgvs_p": "p.Ser6069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866107.1",
"strand": false,
"transcript": "XM_017010618.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8673,
"aa_ref": "S",
"aa_start": 6026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27452,
"cdna_start": 18553,
"cds_end": null,
"cds_length": 26022,
"cds_start": 18077,
"consequences": [
"missense_variant"
],
"exon_count": 144,
"exon_rank": 95,
"exon_rank_end": null,
"feature": "XM_047418512.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18077C>T",
"hgvs_p": "p.Ser6026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274468.1",
"strand": false,
"transcript": "XM_047418512.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8271,
"aa_ref": "S",
"aa_start": 5498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26273,
"cdna_start": 17201,
"cds_end": null,
"cds_length": 24816,
"cds_start": 16493,
"consequences": [
"missense_variant"
],
"exon_count": 134,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_011535644.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.16493C>T",
"hgvs_p": "p.Ser5498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533946.1",
"strand": false,
"transcript": "XM_011535644.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8271,
"aa_ref": "S",
"aa_start": 5498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26268,
"cdna_start": 17196,
"cds_end": null,
"cds_length": 24816,
"cds_start": 16493,
"consequences": [
"missense_variant"
],
"exon_count": 134,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_017010619.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.16493C>T",
"hgvs_p": "p.Ser5498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866108.1",
"strand": false,
"transcript": "XM_017010619.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8102,
"aa_ref": "S",
"aa_start": 5329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25076,
"cdna_start": 16004,
"cds_end": null,
"cds_length": 24309,
"cds_start": 15986,
"consequences": [
"missense_variant"
],
"exon_count": 130,
"exon_rank": 78,
"exon_rank_end": null,
"feature": "XM_011535645.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.15986C>T",
"hgvs_p": "p.Ser5329Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533947.1",
"strand": false,
"transcript": "XM_011535645.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 6593,
"aa_ref": "S",
"aa_start": 6073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20363,
"cdna_start": 18694,
"cds_end": null,
"cds_length": 19782,
"cds_start": 18218,
"consequences": [
"missense_variant"
],
"exon_count": 107,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "XM_047418513.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18218C>T",
"hgvs_p": "p.Ser6073Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274469.1",
"strand": false,
"transcript": "XM_047418513.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139790539",
"effect": "missense_variant",
"frequency_reference_population": 0.0009286541,
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"gnomad_exomes_ac": 1164,
"gnomad_exomes_af": 0.000796239,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_ac": 335,
"gnomad_genomes_af": 0.00219972,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 18,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.653,
"pos": 152284000,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.191,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_182961.4"
}
]
}