← 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: 6-152176541-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152176541&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152176541,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182961.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23480C>G",
"hgvs_p": "p.Ala7827Gly",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 7827,
"aa_end": null,
"aa_length": 8797,
"cds_start": 23480,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 24045,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182961.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23480C>G",
"hgvs_p": "p.Ala7827Gly",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 7827,
"aa_end": null,
"aa_length": 8797,
"cds_start": 23480,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 24045,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367255.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23267C>G",
"hgvs_p": "p.Ala7756Gly",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 7756,
"aa_end": null,
"aa_length": 8749,
"cds_start": 23267,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 23743,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423061.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.2246C>G",
"hgvs_p": "p.Ala749Gly",
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2246,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367251.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.159C>G",
"hgvs_p": null,
"transcript": "ENST00000347037.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000347037.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.7172C>G",
"hgvs_p": null,
"transcript": "ENST00000367256.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10742,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000367256.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.7064C>G",
"hgvs_p": null,
"transcript": "ENST00000409694.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409694.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23267C>G",
"hgvs_p": "p.Ala7756Gly",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 7756,
"aa_end": null,
"aa_length": 8749,
"cds_start": 23267,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 23743,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033071.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ala473Gly",
"transcript": "ENST00000367257.8",
"protein_id": "ENSP00000356226.4",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 1355,
"cds_start": 1418,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367257.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "NM_001347701.2",
"protein_id": "NP_001334630.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 911,
"cds_start": 86,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347701.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000536990.5",
"protein_id": "ENSP00000516090.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 911,
"cds_start": 86,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536990.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8846,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715407.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 131,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8846,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 24081,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010608.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8846,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 23913,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010609.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23513C>G",
"hgvs_p": "p.Ala7838Gly",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 7838,
"aa_end": null,
"aa_length": 8845,
"cds_start": 23513,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 23989,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535641.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23504C>G",
"hgvs_p": "p.Ala7835Gly",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 7835,
"aa_end": null,
"aa_length": 8842,
"cds_start": 23504,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 23980,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715408.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23501C>G",
"hgvs_p": "p.Ala7834Gly",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 7834,
"aa_end": null,
"aa_length": 8841,
"cds_start": 23501,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 23977,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535642.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23495C>G",
"hgvs_p": "p.Ala7832Gly",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 7832,
"aa_end": null,
"aa_length": 8839,
"cds_start": 23495,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 23971,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715409.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23495C>G",
"hgvs_p": "p.Ala7832Gly",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 7832,
"aa_end": null,
"aa_length": 8839,
"cds_start": 23495,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 23892,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010610.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23495C>G",
"hgvs_p": "p.Ala7832Gly",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 7832,
"aa_end": null,
"aa_length": 8839,
"cds_start": 23495,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 24060,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418501.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23489C>G",
"hgvs_p": "p.Ala7830Gly",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 7830,
"aa_end": null,
"aa_length": 8837,
"cds_start": 23489,
"cds_end": null,
"cds_length": 26514,
"cdna_start": 23613,
"cdna_end": null,
"cdna_length": 27387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010611.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8832,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26499,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715410.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23513C>G",
"hgvs_p": "p.Ala7838Gly",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 7838,
"aa_end": null,
"aa_length": 8831,
"cds_start": 23513,
"cds_end": null,
"cds_length": 26496,
"cdna_start": 23989,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418502.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23465C>G",
"hgvs_p": "p.Ala7822Gly",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 7822,
"aa_end": null,
"aa_length": 8829,
"cds_start": 23465,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 23941,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715411.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23465C>G",
"hgvs_p": "p.Ala7822Gly",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 7822,
"aa_end": null,
"aa_length": 8829,
"cds_start": 23465,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 24030,
"cdna_end": null,
"cdna_length": 27804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418503.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23501C>G",
"hgvs_p": "p.Ala7834Gly",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 7834,
"aa_end": null,
"aa_length": 8827,
"cds_start": 23501,
"cds_end": null,
"cds_length": 26484,
"cdna_start": 23977,
"cdna_end": null,
"cdna_length": 27709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715412.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8823,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26472,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715413.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 128,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23444C>G",
"hgvs_p": "p.Ala7815Gly",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 7815,
"aa_end": null,
"aa_length": 8822,
"cds_start": 23444,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 23920,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715414.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23444C>G",
"hgvs_p": "p.Ala7815Gly",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
"transcript_support_level": null,
"aa_start": 7815,
"aa_end": null,
"aa_length": 8822,
"cds_start": 23444,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 24009,
"cdna_end": null,
"cdna_length": 27783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418504.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 128,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23438C>G",
"hgvs_p": "p.Ala7813Gly",
"transcript": "XM_017010612.2",
"protein_id": "XP_016866101.1",
"transcript_support_level": null,
"aa_start": 7813,
"aa_end": null,
"aa_length": 8820,
"cds_start": 23438,
"cds_end": null,
"cds_length": 26463,
"cdna_start": 23562,
"cdna_end": null,
"cdna_length": 27336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010612.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23501C>G",
"hgvs_p": "p.Ala7834Gly",
"transcript": "XM_047418505.1",
"protein_id": "XP_047274461.1",
"transcript_support_level": null,
"aa_start": 7834,
"aa_end": null,
"aa_length": 8818,
"cds_start": 23501,
"cds_end": null,
"cds_length": 26457,
"cdna_start": 23977,
"cdna_end": null,
"cdna_length": 27682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418505.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715415.3",
"protein_id": "XP_006715478.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8809,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26430,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715415.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23513C>G",
"hgvs_p": "p.Ala7838Gly",
"transcript": "XM_017010613.2",
"protein_id": "XP_016866102.1",
"transcript_support_level": null,
"aa_start": 7838,
"aa_end": null,
"aa_length": 8808,
"cds_start": 23513,
"cds_end": null,
"cds_length": 26427,
"cdna_start": 23989,
"cdna_end": null,
"cdna_length": 27652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010613.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23501C>G",
"hgvs_p": "p.Ala7834Gly",
"transcript": "XM_006715416.3",
"protein_id": "XP_006715479.1",
"transcript_support_level": null,
"aa_start": 7834,
"aa_end": null,
"aa_length": 8804,
"cds_start": 23501,
"cds_end": null,
"cds_length": 26415,
"cdna_start": 23977,
"cdna_end": null,
"cdna_length": 27640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715416.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23375C>G",
"hgvs_p": "p.Ala7792Gly",
"transcript": "XM_006715417.3",
"protein_id": "XP_006715480.1",
"transcript_support_level": null,
"aa_start": 7792,
"aa_end": null,
"aa_length": 8799,
"cds_start": 23375,
"cds_end": null,
"cds_length": 26400,
"cdna_start": 23851,
"cdna_end": null,
"cdna_length": 27625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715417.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23372C>G",
"hgvs_p": "p.Ala7791Gly",
"transcript": "XM_047418506.1",
"protein_id": "XP_047274462.1",
"transcript_support_level": null,
"aa_start": 7791,
"aa_end": null,
"aa_length": 8798,
"cds_start": 23372,
"cds_end": null,
"cds_length": 26397,
"cdna_start": 23848,
"cdna_end": null,
"cdna_length": 27622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418506.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23363C>G",
"hgvs_p": "p.Ala7788Gly",
"transcript": "XM_006715420.3",
"protein_id": "XP_006715483.1",
"transcript_support_level": null,
"aa_start": 7788,
"aa_end": null,
"aa_length": 8795,
"cds_start": 23363,
"cds_end": null,
"cds_length": 26388,
"cdna_start": 23839,
"cdna_end": null,
"cdna_length": 27613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715420.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23360C>G",
"hgvs_p": "p.Ala7787Gly",
"transcript": "XM_006715421.3",
"protein_id": "XP_006715484.1",
"transcript_support_level": null,
"aa_start": 7787,
"aa_end": null,
"aa_length": 8794,
"cds_start": 23360,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 23836,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715421.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23360C>G",
"hgvs_p": "p.Ala7787Gly",
"transcript": "XM_017010614.2",
"protein_id": "XP_016866103.1",
"transcript_support_level": null,
"aa_start": 7787,
"aa_end": null,
"aa_length": 8794,
"cds_start": 23360,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 23836,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010614.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23357C>G",
"hgvs_p": "p.Ala7786Gly",
"transcript": "XM_006715422.2",
"protein_id": "XP_006715485.1",
"transcript_support_level": null,
"aa_start": 7786,
"aa_end": null,
"aa_length": 8793,
"cds_start": 23357,
"cds_end": null,
"cds_length": 26382,
"cdna_start": 23833,
"cdna_end": null,
"cdna_length": 27607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715422.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23351C>G",
"hgvs_p": "p.Ala7784Gly",
"transcript": "XM_011535643.2",
"protein_id": "XP_011533945.1",
"transcript_support_level": null,
"aa_start": 7784,
"aa_end": null,
"aa_length": 8791,
"cds_start": 23351,
"cds_end": null,
"cds_length": 26376,
"cdna_start": 23827,
"cdna_end": null,
"cdna_length": 27601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535643.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 128,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23336C>G",
"hgvs_p": "p.Ala7779Gly",
"transcript": "XM_047418507.1",
"protein_id": "XP_047274463.1",
"transcript_support_level": null,
"aa_start": 7779,
"aa_end": null,
"aa_length": 8786,
"cds_start": 23336,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 23812,
"cdna_end": null,
"cdna_length": 27586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418507.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 128,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23336C>G",
"hgvs_p": "p.Ala7779Gly",
"transcript": "XM_047418508.1",
"protein_id": "XP_047274464.1",
"transcript_support_level": null,
"aa_start": 7779,
"aa_end": null,
"aa_length": 8786,
"cds_start": 23336,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 23733,
"cdna_end": null,
"cdna_length": 27507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418508.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23363C>G",
"hgvs_p": "p.Ala7788Gly",
"transcript": "XM_047418509.1",
"protein_id": "XP_047274465.1",
"transcript_support_level": null,
"aa_start": 7788,
"aa_end": null,
"aa_length": 8781,
"cds_start": 23363,
"cds_end": null,
"cds_length": 26346,
"cdna_start": 23839,
"cdna_end": null,
"cdna_length": 27571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418509.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 127,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23285C>G",
"hgvs_p": "p.Ala7762Gly",
"transcript": "XM_047418510.1",
"protein_id": "XP_047274466.1",
"transcript_support_level": null,
"aa_start": 7762,
"aa_end": null,
"aa_length": 8769,
"cds_start": 23285,
"cds_end": null,
"cds_length": 26310,
"cdna_start": 23761,
"cdna_end": null,
"cdna_length": 27535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418510.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715423.3",
"protein_id": "XP_006715486.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8758,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715423.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23363C>G",
"hgvs_p": "p.Ala7788Gly",
"transcript": "XM_047418511.1",
"protein_id": "XP_047274467.1",
"transcript_support_level": null,
"aa_start": 7788,
"aa_end": null,
"aa_length": 8758,
"cds_start": 23363,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 23839,
"cdna_end": null,
"cdna_length": 27502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418511.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23360C>G",
"hgvs_p": "p.Ala7787Gly",
"transcript": "XM_017010615.2",
"protein_id": "XP_016866104.1",
"transcript_support_level": null,
"aa_start": 7787,
"aa_end": null,
"aa_length": 8757,
"cds_start": 23360,
"cds_end": null,
"cds_length": 26274,
"cdna_start": 23836,
"cdna_end": null,
"cdna_length": 27499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010615.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715424.3",
"protein_id": "XP_006715487.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8744,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26235,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715424.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_017010616.2",
"protein_id": "XP_016866105.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8735,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26208,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010616.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23516C>G",
"hgvs_p": "p.Ala7839Gly",
"transcript": "XM_006715425.3",
"protein_id": "XP_006715488.1",
"transcript_support_level": null,
"aa_start": 7839,
"aa_end": null,
"aa_length": 8721,
"cds_start": 23516,
"cds_end": null,
"cds_length": 26166,
"cdna_start": 23992,
"cdna_end": null,
"cdna_length": 27596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715425.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23513C>G",
"hgvs_p": "p.Ala7838Gly",
"transcript": "XM_017010617.2",
"protein_id": "XP_016866106.1",
"transcript_support_level": null,
"aa_start": 7838,
"aa_end": null,
"aa_length": 8720,
"cds_start": 23513,
"cds_end": null,
"cds_length": 26163,
"cdna_start": 23989,
"cdna_end": null,
"cdna_length": 27593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010617.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23501C>G",
"hgvs_p": "p.Ala7834Gly",
"transcript": "XM_017010618.2",
"protein_id": "XP_016866107.1",
"transcript_support_level": null,
"aa_start": 7834,
"aa_end": null,
"aa_length": 8716,
"cds_start": 23501,
"cds_end": null,
"cds_length": 26151,
"cdna_start": 23977,
"cdna_end": null,
"cdna_length": 27581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010618.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 144,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.23372C>G",
"hgvs_p": "p.Ala7791Gly",
"transcript": "XM_047418512.1",
"protein_id": "XP_047274468.1",
"transcript_support_level": null,
"aa_start": 7791,
"aa_end": null,
"aa_length": 8673,
"cds_start": 23372,
"cds_end": null,
"cds_length": 26022,
"cdna_start": 23848,
"cdna_end": null,
"cdna_length": 27452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418512.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21791C>G",
"hgvs_p": "p.Ala7264Gly",
"transcript": "XM_011535644.2",
"protein_id": "XP_011533946.1",
"transcript_support_level": null,
"aa_start": 7264,
"aa_end": null,
"aa_length": 8271,
"cds_start": 21791,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 22499,
"cdna_end": null,
"cdna_length": 26273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535644.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 116,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21791C>G",
"hgvs_p": "p.Ala7264Gly",
"transcript": "XM_017010619.2",
"protein_id": "XP_016866108.1",
"transcript_support_level": null,
"aa_start": 7264,
"aa_end": null,
"aa_length": 8271,
"cds_start": 21791,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 22494,
"cdna_end": null,
"cdna_length": 26268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010619.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 130,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21284C>G",
"hgvs_p": "p.Ala7095Gly",
"transcript": "XM_011535645.3",
"protein_id": "XP_011533947.1",
"transcript_support_level": null,
"aa_start": 7095,
"aa_end": null,
"aa_length": 8102,
"cds_start": 21284,
"cds_end": null,
"cds_length": 24309,
"cdna_start": 21302,
"cdna_end": null,
"cdna_length": 25076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535645.3"
}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs141315921",
"frequency_reference_population": 0.0002236837,
"hom_count_reference_population": 2,
"allele_count_reference_population": 361,
"gnomad_exomes_af": 0.000117677,
"gnomad_genomes_af": 0.00124131,
"gnomad_exomes_ac": 172,
"gnomad_genomes_ac": 189,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004514813423156738,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.1115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.234,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_182961.4",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.23480C>G",
"hgvs_p": "p.Ala7827Gly"
}
],
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,Inborn genetic diseases,SYNE1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:2",
"phenotype_combined": "not specified|Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Inborn genetic diseases|SYNE1-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}