← 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: 6-152387223-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152387223&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152387223,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 8797,
"cds_start": 8336,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 8901,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 2779,
"aa_end": null,
"aa_length": 8797,
"cds_start": 8336,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 8901,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8749,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27475,
"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": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.8554T>G",
"hgvs_p": null,
"transcript": "ENST00000461872.6",
"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": 10075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8749,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8846,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8846,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 8922,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8846,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 8754,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8845,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8842,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8841,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 8839,
"cds_start": 8336,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 8812,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 8839,
"cds_start": 8336,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 8733,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 8839,
"cds_start": 8336,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 8901,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8330T>G",
"hgvs_p": "p.Ile2777Ser",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 2777,
"aa_end": null,
"aa_length": 8837,
"cds_start": 8330,
"cds_end": null,
"cds_length": 26514,
"cdna_start": 8454,
"cdna_end": null,
"cdna_length": 27387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8832,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26499,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8831,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26496,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8306T>G",
"hgvs_p": "p.Ile2769Ser",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 2769,
"aa_end": null,
"aa_length": 8829,
"cds_start": 8306,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 8782,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8306T>G",
"hgvs_p": "p.Ile2769Ser",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 2769,
"aa_end": null,
"aa_length": 8829,
"cds_start": 8306,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 8871,
"cdna_end": null,
"cdna_length": 27804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8827,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26484,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8823,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26472,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8285T>G",
"hgvs_p": "p.Ile2762Ser",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 8822,
"cds_start": 8285,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 8761,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8285T>G",
"hgvs_p": "p.Ile2762Ser",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 8822,
"cds_start": 8285,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 8850,
"cdna_end": null,
"cdna_length": 27783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8279T>G",
"hgvs_p": "p.Ile2760Ser",
"transcript": "XM_017010612.2",
"protein_id": "XP_016866101.1",
"transcript_support_level": null,
"aa_start": 2760,
"aa_end": null,
"aa_length": 8820,
"cds_start": 8279,
"cds_end": null,
"cds_length": 26463,
"cdna_start": 8403,
"cdna_end": null,
"cdna_length": 27336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418505.1",
"protein_id": "XP_047274461.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8818,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26457,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715415.3",
"protein_id": "XP_006715478.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8809,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26430,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010613.2",
"protein_id": "XP_016866102.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8808,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26427,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715416.3",
"protein_id": "XP_006715479.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8804,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26415,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715417.3",
"protein_id": "XP_006715480.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8799,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26400,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418506.1",
"protein_id": "XP_047274462.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8798,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26397,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715420.3",
"protein_id": "XP_006715483.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8795,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26388,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715421.3",
"protein_id": "XP_006715484.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8794,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010614.2",
"protein_id": "XP_016866103.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8794,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26385,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8198T>G",
"hgvs_p": "p.Ile2733Ser",
"transcript": "XM_006715422.2",
"protein_id": "XP_006715485.1",
"transcript_support_level": null,
"aa_start": 2733,
"aa_end": null,
"aa_length": 8793,
"cds_start": 8198,
"cds_end": null,
"cds_length": 26382,
"cdna_start": 8674,
"cdna_end": null,
"cdna_length": 27607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8192T>G",
"hgvs_p": "p.Ile2731Ser",
"transcript": "XM_011535643.2",
"protein_id": "XP_011533945.1",
"transcript_support_level": null,
"aa_start": 2731,
"aa_end": null,
"aa_length": 8791,
"cds_start": 8192,
"cds_end": null,
"cds_length": 26376,
"cdna_start": 8668,
"cdna_end": null,
"cdna_length": 27601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8177T>G",
"hgvs_p": "p.Ile2726Ser",
"transcript": "XM_047418507.1",
"protein_id": "XP_047274463.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 8786,
"cds_start": 8177,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 8653,
"cdna_end": null,
"cdna_length": 27586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8177T>G",
"hgvs_p": "p.Ile2726Ser",
"transcript": "XM_047418508.1",
"protein_id": "XP_047274464.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 8786,
"cds_start": 8177,
"cds_end": null,
"cds_length": 26361,
"cdna_start": 8574,
"cdna_end": null,
"cdna_length": 27507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418509.1",
"protein_id": "XP_047274465.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8781,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26346,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8126T>G",
"hgvs_p": "p.Ile2709Ser",
"transcript": "XM_047418510.1",
"protein_id": "XP_047274466.1",
"transcript_support_level": null,
"aa_start": 2709,
"aa_end": null,
"aa_length": 8769,
"cds_start": 8126,
"cds_end": null,
"cds_length": 26310,
"cdna_start": 8602,
"cdna_end": null,
"cdna_length": 27535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715423.3",
"protein_id": "XP_006715486.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8758,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418511.1",
"protein_id": "XP_047274467.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8758,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26277,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010615.2",
"protein_id": "XP_016866104.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8757,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26274,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715424.3",
"protein_id": "XP_006715487.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8744,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26235,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010616.2",
"protein_id": "XP_016866105.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8735,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26208,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_006715425.3",
"protein_id": "XP_006715488.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8721,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26166,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010617.2",
"protein_id": "XP_016866106.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8720,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26163,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 145,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_017010618.2",
"protein_id": "XP_016866107.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8716,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26151,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 144,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418512.1",
"protein_id": "XP_047274468.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 8673,
"cds_start": 8357,
"cds_end": null,
"cds_length": 26022,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 27452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.6632T>G",
"hgvs_p": "p.Ile2211Ser",
"transcript": "XM_011535644.2",
"protein_id": "XP_011533946.1",
"transcript_support_level": null,
"aa_start": 2211,
"aa_end": null,
"aa_length": 8271,
"cds_start": 6632,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 7340,
"cdna_end": null,
"cdna_length": 26273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 134,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.6632T>G",
"hgvs_p": "p.Ile2211Ser",
"transcript": "XM_017010619.2",
"protein_id": "XP_016866108.1",
"transcript_support_level": null,
"aa_start": 2211,
"aa_end": null,
"aa_length": 8271,
"cds_start": 6632,
"cds_end": null,
"cds_length": 24816,
"cdna_start": 7335,
"cdna_end": null,
"cdna_length": 26268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 130,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.6125T>G",
"hgvs_p": "p.Ile2042Ser",
"transcript": "XM_011535645.3",
"protein_id": "XP_011533947.1",
"transcript_support_level": null,
"aa_start": 2042,
"aa_end": null,
"aa_length": 8102,
"cds_start": 6125,
"cds_end": null,
"cds_length": 24309,
"cdna_start": 6143,
"cdna_end": null,
"cdna_length": 25076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.8357T>G",
"hgvs_p": "p.Ile2786Ser",
"transcript": "XM_047418513.1",
"protein_id": "XP_047274469.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 6593,
"cds_start": 8357,
"cds_end": null,
"cds_length": 19782,
"cdna_start": 8833,
"cdna_end": null,
"cdna_length": 20363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs77121899",
"frequency_reference_population": 0.0025996168,
"hom_count_reference_population": 108,
"allele_count_reference_population": 4196,
"gnomad_exomes_af": 0.00136605,
"gnomad_genomes_af": 0.0144473,
"gnomad_exomes_ac": 1997,
"gnomad_genomes_ac": 2199,
"gnomad_exomes_homalt": 54,
"gnomad_genomes_homalt": 54,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004317820072174072,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.2288,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.147,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.8336T>G",
"hgvs_p": "p.Ile2779Ser"
}
],
"clinvar_disease": " Beauce type, autosomal dominant, myogenic type,Arthrogryposis multiplex congenita 3,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "Autosomal recessive ataxia, Beauce type|not specified|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type;Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}