← 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: 6-152149617-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152149617&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152149617,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24502G>A",
"hgvs_p": "p.Ala8168Thr",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 8168,
"aa_end": null,
"aa_length": 8797,
"cds_start": 24502,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 25067,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24502G>A",
"hgvs_p": "p.Ala8168Thr",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 8168,
"aa_end": null,
"aa_length": 8797,
"cds_start": 24502,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 25067,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Ala323Thr",
"transcript": "NM_001347702.2",
"protein_id": "NP_001334631.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 975,
"cds_start": 967,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": "ENST00000354674.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Ala323Thr",
"transcript": "ENST00000354674.5",
"protein_id": "ENSP00000346701.4",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 975,
"cds_start": 967,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": "NM_001347702.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24289G>A",
"hgvs_p": "p.Ala8097Thr",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 8097,
"aa_end": null,
"aa_length": 8749,
"cds_start": 24289,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 24765,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Ala1090Thr",
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1654,
"cds_start": 3268,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 3268,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.1181G>A",
"hgvs_p": null,
"transcript": "ENST00000347037.9",
"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": 3798,
"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": 51,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.8194G>A",
"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": 49,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.8086G>A",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.1047G>A",
"hgvs_p": null,
"transcript": "ENST00000460912.6",
"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": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24289G>A",
"hgvs_p": "p.Ala8097Thr",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 8097,
"aa_end": null,
"aa_length": 8749,
"cds_start": 24289,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 24765,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Ala814Thr",
"transcript": "ENST00000367257.8",
"protein_id": "ENSP00000356226.4",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2440,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Ala323Thr",
"transcript": "ENST00000539504.5",
"protein_id": "ENSP00000441052.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 952,
"cds_start": 967,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Ala370Thr",
"transcript": "NM_001347701.2",
"protein_id": "NP_001334630.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 911,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Ala370Thr",
"transcript": "ENST00000536990.5",
"protein_id": "ENSP00000516090.1",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 911,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Ala79Thr",
"transcript": "ENST00000672169.1",
"protein_id": "ENSP00000500287.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 634,
"cds_start": 235,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Ala139Thr",
"transcript": "ENST00000673173.1",
"protein_id": "ENSP00000500180.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 590,
"cds_start": 415,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000672154.1",
"protein_id": "ENSP00000500128.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 509,
"cds_start": 16,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 18,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8846,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 137,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8846,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 25103,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8846,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 24935,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24535G>A",
"hgvs_p": "p.Ala8179Thr",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 8179,
"aa_end": null,
"aa_length": 8845,
"cds_start": 24535,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 25011,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24526G>A",
"hgvs_p": "p.Ala8176Thr",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 8176,
"aa_end": null,
"aa_length": 8842,
"cds_start": 24526,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 25002,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24523G>A",
"hgvs_p": "p.Ala8175Thr",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 8175,
"aa_end": null,
"aa_length": 8841,
"cds_start": 24523,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 24999,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24517G>A",
"hgvs_p": "p.Ala8173Thr",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 8173,
"aa_end": null,
"aa_length": 8839,
"cds_start": 24517,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 24993,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24517G>A",
"hgvs_p": "p.Ala8173Thr",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 8173,
"aa_end": null,
"aa_length": 8839,
"cds_start": 24517,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 24914,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24517G>A",
"hgvs_p": "p.Ala8173Thr",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 8173,
"aa_end": null,
"aa_length": 8839,
"cds_start": 24517,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 25082,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24511G>A",
"hgvs_p": "p.Ala8171Thr",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 8171,
"aa_end": null,
"aa_length": 8837,
"cds_start": 24511,
"cds_end": null,
"cds_length": 26514,
"cdna_start": 24635,
"cdna_end": null,
"cdna_length": 27387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8832,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26499,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24535G>A",
"hgvs_p": "p.Ala8179Thr",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 8179,
"aa_end": null,
"aa_length": 8831,
"cds_start": 24535,
"cds_end": null,
"cds_length": 26496,
"cdna_start": 25011,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24487G>A",
"hgvs_p": "p.Ala8163Thr",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 8163,
"aa_end": null,
"aa_length": 8829,
"cds_start": 24487,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 24963,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24487G>A",
"hgvs_p": "p.Ala8163Thr",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 8163,
"aa_end": null,
"aa_length": 8829,
"cds_start": 24487,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 25052,
"cdna_end": null,
"cdna_length": 27804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24523G>A",
"hgvs_p": "p.Ala8175Thr",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 8175,
"aa_end": null,
"aa_length": 8827,
"cds_start": 24523,
"cds_end": null,
"cds_length": 26484,
"cdna_start": 24999,
"cdna_end": null,
"cdna_length": 27709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8823,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26472,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 134,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24466G>A",
"hgvs_p": "p.Ala8156Thr",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 8156,
"aa_end": null,
"aa_length": 8822,
"cds_start": 24466,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 24942,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24466G>A",
"hgvs_p": "p.Ala8156Thr",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
"transcript_support_level": null,
"aa_start": 8156,
"aa_end": null,
"aa_length": 8822,
"cds_start": 24466,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 25031,
"cdna_end": null,
"cdna_length": 27783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 134,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24460G>A",
"hgvs_p": "p.Ala8154Thr",
"transcript": "XM_017010612.2",
"protein_id": "XP_016866101.1",
"transcript_support_level": null,
"aa_start": 8154,
"aa_end": null,
"aa_length": 8820,
"cds_start": 24460,
"cds_end": null,
"cds_length": 26463,
"cdna_start": 24584,
"cdna_end": null,
"cdna_length": 27336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24523G>A",
"hgvs_p": "p.Ala8175Thr",
"transcript": "XM_047418505.1",
"protein_id": "XP_047274461.1",
"transcript_support_level": null,
"aa_start": 8175,
"aa_end": null,
"aa_length": 8818,
"cds_start": 24523,
"cds_end": null,
"cds_length": 26457,
"cdna_start": 24999,
"cdna_end": null,
"cdna_length": 27682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715415.3",
"protein_id": "XP_006715478.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8809,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26430,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24535G>A",
"hgvs_p": "p.Ala8179Thr",
"transcript": "XM_017010613.2",
"protein_id": "XP_016866102.1",
"transcript_support_level": null,
"aa_start": 8179,
"aa_end": null,
"aa_length": 8808,
"cds_start": 24535,
"cds_end": null,
"cds_length": 26427,
"cdna_start": 25011,
"cdna_end": null,
"cdna_length": 27652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24523G>A",
"hgvs_p": "p.Ala8175Thr",
"transcript": "XM_006715416.3",
"protein_id": "XP_006715479.1",
"transcript_support_level": null,
"aa_start": 8175,
"aa_end": null,
"aa_length": 8804,
"cds_start": 24523,
"cds_end": null,
"cds_length": 26415,
"cdna_start": 24999,
"cdna_end": null,
"cdna_length": 27640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24397G>A",
"hgvs_p": "p.Ala8133Thr",
"transcript": "XM_006715417.3",
"protein_id": "XP_006715480.1",
"transcript_support_level": null,
"aa_start": 8133,
"aa_end": null,
"aa_length": 8799,
"cds_start": 24397,
"cds_end": null,
"cds_length": 26400,
"cdna_start": 24873,
"cdna_end": null,
"cdna_length": 27625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24394G>A",
"hgvs_p": "p.Ala8132Thr",
"transcript": "XM_047418506.1",
"protein_id": "XP_047274462.1",
"transcript_support_level": null,
"aa_start": 8132,
"aa_end": null,
"aa_length": 8798,
"cds_start": 24394,
"cds_end": null,
"cds_length": 26397,
"cdna_start": 24870,
"cdna_end": null,
"cdna_length": 27622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24385G>A",
"hgvs_p": "p.Ala8129Thr",
"transcript": "XM_006715420.3",
"protein_id": "XP_006715483.1",
"transcript_support_level": null,
"aa_start": 8129,
"aa_end": null,
"aa_length": 8795,
"cds_start": 24385,
"cds_end": null,
"cds_length": 26388,
"cdna_start": 24861,
"cdna_end": null,
"cdna_length": 27613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24382G>A",
"hgvs_p": "p.Ala8128Thr",
"transcript": "XM_006715421.3",
"protein_id": "XP_006715484.1",
"transcript_support_level": null,
"aa_start": 8128,
"aa_end": null,
"aa_length": 8794,
"cds_start": 24382,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 24858,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24382G>A",
"hgvs_p": "p.Ala8128Thr",
"transcript": "XM_017010614.2",
"protein_id": "XP_016866103.1",
"transcript_support_level": null,
"aa_start": 8128,
"aa_end": null,
"aa_length": 8794,
"cds_start": 24382,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 24858,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24379G>A",
"hgvs_p": "p.Ala8127Thr",
"transcript": "XM_006715422.2",
"protein_id": "XP_006715485.1",
"transcript_support_level": null,
"aa_start": 8127,
"aa_end": null,
"aa_length": 8793,
"cds_start": 24379,
"cds_end": null,
"cds_length": 26382,
"cdna_start": 24855,
"cdna_end": null,
"cdna_length": 27607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24373G>A",
"hgvs_p": "p.Ala8125Thr",
"transcript": "XM_011535643.2",
"protein_id": "XP_011533945.1",
"transcript_support_level": null,
"aa_start": 8125,
"aa_end": null,
"aa_length": 8791,
"cds_start": 24373,
"cds_end": null,
"cds_length": 26376,
"cdna_start": 24849,
"cdna_end": null,
"cdna_length": 27601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 134,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24358G>A",
"hgvs_p": "p.Ala8120Thr",
"transcript": "XM_047418507.1",
"protein_id": "XP_047274463.1",
"transcript_support_level": null,
"aa_start": 8120,
"aa_end": null,
"aa_length": 8786,
"cds_start": 24358,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 24834,
"cdna_end": null,
"cdna_length": 27586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 134,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24358G>A",
"hgvs_p": "p.Ala8120Thr",
"transcript": "XM_047418508.1",
"protein_id": "XP_047274464.1",
"transcript_support_level": null,
"aa_start": 8120,
"aa_end": null,
"aa_length": 8786,
"cds_start": 24358,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 24755,
"cdna_end": null,
"cdna_length": 27507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24385G>A",
"hgvs_p": "p.Ala8129Thr",
"transcript": "XM_047418509.1",
"protein_id": "XP_047274465.1",
"transcript_support_level": null,
"aa_start": 8129,
"aa_end": null,
"aa_length": 8781,
"cds_start": 24385,
"cds_end": null,
"cds_length": 26346,
"cdna_start": 24861,
"cdna_end": null,
"cdna_length": 27571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 133,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24307G>A",
"hgvs_p": "p.Ala8103Thr",
"transcript": "XM_047418510.1",
"protein_id": "XP_047274466.1",
"transcript_support_level": null,
"aa_start": 8103,
"aa_end": null,
"aa_length": 8769,
"cds_start": 24307,
"cds_end": null,
"cds_length": 26310,
"cdna_start": 24783,
"cdna_end": null,
"cdna_length": 27535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715423.3",
"protein_id": "XP_006715486.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8758,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24385G>A",
"hgvs_p": "p.Ala8129Thr",
"transcript": "XM_047418511.1",
"protein_id": "XP_047274467.1",
"transcript_support_level": null,
"aa_start": 8129,
"aa_end": null,
"aa_length": 8758,
"cds_start": 24385,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 24861,
"cdna_end": null,
"cdna_length": 27502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24382G>A",
"hgvs_p": "p.Ala8128Thr",
"transcript": "XM_017010615.2",
"protein_id": "XP_016866104.1",
"transcript_support_level": null,
"aa_start": 8128,
"aa_end": null,
"aa_length": 8757,
"cds_start": 24382,
"cds_end": null,
"cds_length": 26274,
"cdna_start": 24858,
"cdna_end": null,
"cdna_length": 27499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715424.3",
"protein_id": "XP_006715487.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8744,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26235,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_017010616.2",
"protein_id": "XP_016866105.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8735,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26208,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24538G>A",
"hgvs_p": "p.Ala8180Thr",
"transcript": "XM_006715425.3",
"protein_id": "XP_006715488.1",
"transcript_support_level": null,
"aa_start": 8180,
"aa_end": null,
"aa_length": 8721,
"cds_start": 24538,
"cds_end": null,
"cds_length": 26166,
"cdna_start": 25014,
"cdna_end": null,
"cdna_length": 27596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24535G>A",
"hgvs_p": "p.Ala8179Thr",
"transcript": "XM_017010617.2",
"protein_id": "XP_016866106.1",
"transcript_support_level": null,
"aa_start": 8179,
"aa_end": null,
"aa_length": 8720,
"cds_start": 24535,
"cds_end": null,
"cds_length": 26163,
"cdna_start": 25011,
"cdna_end": null,
"cdna_length": 27593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 136,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24523G>A",
"hgvs_p": "p.Ala8175Thr",
"transcript": "XM_017010618.2",
"protein_id": "XP_016866107.1",
"transcript_support_level": null,
"aa_start": 8175,
"aa_end": null,
"aa_length": 8716,
"cds_start": 24523,
"cds_end": null,
"cds_length": 26151,
"cdna_start": 24999,
"cdna_end": null,
"cdna_length": 27581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 144,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.24394G>A",
"hgvs_p": "p.Ala8132Thr",
"transcript": "XM_047418512.1",
"protein_id": "XP_047274468.1",
"transcript_support_level": null,
"aa_start": 8132,
"aa_end": null,
"aa_length": 8673,
"cds_start": 24394,
"cds_end": null,
"cds_length": 26022,
"cdna_start": 24870,
"cdna_end": null,
"cdna_length": 27452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 122,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22813G>A",
"hgvs_p": "p.Ala7605Thr",
"transcript": "XM_011535644.2",
"protein_id": "XP_011533946.1",
"transcript_support_level": null,
"aa_start": 7605,
"aa_end": null,
"aa_length": 8271,
"cds_start": 22813,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 23521,
"cdna_end": null,
"cdna_length": 26273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 122,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22813G>A",
"hgvs_p": "p.Ala7605Thr",
"transcript": "XM_017010619.2",
"protein_id": "XP_016866108.1",
"transcript_support_level": null,
"aa_start": 7605,
"aa_end": null,
"aa_length": 8271,
"cds_start": 22813,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 23516,
"cdna_end": null,
"cdna_length": 26268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 130,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.22306G>A",
"hgvs_p": "p.Ala7436Thr",
"transcript": "XM_011535645.3",
"protein_id": "XP_011533947.1",
"transcript_support_level": null,
"aa_start": 7436,
"aa_end": null,
"aa_length": 8102,
"cds_start": 22306,
"cds_end": null,
"cds_length": 24309,
"cdna_start": 22324,
"cdna_end": null,
"cdna_length": 25076,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.564G>A",
"hgvs_p": null,
"transcript": "ENST00000476519.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 582,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.274G>A",
"hgvs_p": null,
"transcript": "ENST00000673451.1",
"protein_id": "ENSP00000500189.1",
"transcript_support_level": null,
"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": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300811",
"gene_hgnc_id": null,
"hgvs_c": "n.207-10412C>T",
"hgvs_p": null,
"transcript": "ENST00000774204.1",
"protein_id": null,
"transcript_support_level": null,
"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": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300811",
"gene_hgnc_id": null,
"hgvs_c": "n.212-6280C>T",
"hgvs_p": null,
"transcript": "ENST00000774205.1",
"protein_id": null,
"transcript_support_level": null,
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.-111G>A",
"hgvs_p": null,
"transcript": "ENST00000472563.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs17082236",
"frequency_reference_population": 0.000006580333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658033,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12803694605827332,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.575,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.24502G>A",
"hgvs_p": "p.Ala8168Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000774204.1",
"gene_symbol": "ENSG00000300811",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.207-10412C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}