← 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: 22-33304495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33304495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_004737.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "22",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Muscular dystrophy-dystroglycanopathy type B6",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_133642.5",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397394.8",
"protein_coding": true,
"protein_id": "NP_598397.1",
"strand": false,
"transcript": "NM_133642.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397394.8",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133642.5",
"protein_coding": true,
"protein_id": "ENSP00000380549.2",
"strand": false,
"transcript": "ENST00000397394.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000354992.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347088.2",
"strand": false,
"transcript": "ENST00000354992.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "L",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402320.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Leu436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385223.1",
"strand": false,
"transcript": "ENST00000402320.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911682.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581741.1",
"strand": false,
"transcript": "ENST00000911682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966032.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636091.1",
"strand": false,
"transcript": "ENST00000966032.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362949.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349878.1",
"strand": false,
"transcript": "NM_001362949.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362951.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349880.1",
"strand": false,
"transcript": "NM_001362951.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362953.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349882.1",
"strand": false,
"transcript": "NM_001362953.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378624.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365553.1",
"strand": false,
"transcript": "NM_001378624.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378625.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365554.1",
"strand": false,
"transcript": "NM_001378625.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378626.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365555.1",
"strand": false,
"transcript": "NM_001378626.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004737.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004728.1",
"strand": false,
"transcript": "NM_004737.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000413114.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415546.2",
"strand": false,
"transcript": "ENST00000413114.6",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675416.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502826.1",
"strand": false,
"transcript": "ENST00000675416.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676070.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502152.1",
"strand": false,
"transcript": "ENST00000676070.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676132.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501854.1",
"strand": false,
"transcript": "ENST00000676132.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676370.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502238.1",
"strand": false,
"transcript": "ENST00000676370.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899788.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569847.1",
"strand": false,
"transcript": "ENST00000899788.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899791.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569850.1",
"strand": false,
"transcript": "ENST00000899791.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899792.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569851.1",
"strand": false,
"transcript": "ENST00000899792.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899793.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569852.1",
"strand": false,
"transcript": "ENST00000899793.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899794.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569853.1",
"strand": false,
"transcript": "ENST00000899794.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899795.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569854.1",
"strand": false,
"transcript": "ENST00000899795.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000911680.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581739.1",
"strand": false,
"transcript": "ENST00000911680.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966035.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636094.1",
"strand": false,
"transcript": "ENST00000966035.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966036.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636095.1",
"strand": false,
"transcript": "ENST00000966036.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966037.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636096.1",
"strand": false,
"transcript": "ENST00000966037.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966038.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636097.1",
"strand": false,
"transcript": "ENST00000966038.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 754,
"aa_ref": "L",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966034.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Leu486Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636093.1",
"strand": false,
"transcript": "ENST00000966034.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 740,
"aa_ref": "L",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1416,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899790.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1416G>A",
"hgvs_p": "p.Leu472Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569849.1",
"strand": false,
"transcript": "ENST00000899790.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 740,
"aa_ref": "L",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1416,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966033.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1416G>A",
"hgvs_p": "p.Leu472Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636092.1",
"strand": false,
"transcript": "ENST00000966033.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 714,
"aa_ref": "L",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674668.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1338G>A",
"hgvs_p": "p.Leu446Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502103.1",
"strand": false,
"transcript": "ENST00000674668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378627.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365556.1",
"strand": false,
"transcript": "NM_001378627.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4606,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378628.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365557.1",
"strand": false,
"transcript": "NM_001378628.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000674789.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501941.1",
"strand": false,
"transcript": "ENST00000674789.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911681.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581740.1",
"strand": false,
"transcript": "ENST00000911681.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4766,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966030.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636089.1",
"strand": false,
"transcript": "ENST00000966030.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "L",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378629.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Leu436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365558.1",
"strand": false,
"transcript": "NM_001378629.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "L",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899789.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Leu436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569848.1",
"strand": false,
"transcript": "ENST00000899789.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000674999.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Leu420Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502711.1",
"strand": false,
"transcript": "ENST00000674999.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675277.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Leu420Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502702.1",
"strand": false,
"transcript": "ENST00000675277.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 687,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1257,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000911678.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Leu419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581737.1",
"strand": false,
"transcript": "ENST00000911678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 687,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1257,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000911679.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Leu419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581738.1",
"strand": false,
"transcript": "ENST00000911679.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 687,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1257,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966031.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Leu419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636090.1",
"strand": false,
"transcript": "ENST00000966031.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6484,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000610186.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476364.2",
"strand": false,
"transcript": "ENST00000610186.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 599,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000608642.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476866.2",
"strand": false,
"transcript": "ENST00000608642.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 555,
"aa_ref": "L",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1668,
"cds_start": 861,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378630.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Leu287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365559.1",
"strand": false,
"transcript": "NM_001378630.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 555,
"aa_ref": "L",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1668,
"cds_start": 861,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000674780.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Leu287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502772.1",
"strand": false,
"transcript": "ENST00000674780.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "L",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1365,
"cds_start": 705,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001378631.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Leu235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365560.1",
"strand": false,
"transcript": "NM_001378631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10438,
"cdna_start": 7713,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047441599.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297555.1",
"strand": false,
"transcript": "XM_047441599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4926,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047441600.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297556.1",
"strand": false,
"transcript": "XM_047441600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10936,
"cdna_start": 8211,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047441601.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297557.1",
"strand": false,
"transcript": "XM_047441601.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047441602.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297558.1",
"strand": false,
"transcript": "XM_047441602.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7109,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1464,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_024452302.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Leu488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308070.1",
"strand": false,
"transcript": "XM_024452302.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10381,
"cdna_start": 7656,
"cds_end": null,
"cds_length": 1605,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441603.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Leu266Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297559.1",
"strand": false,
"transcript": "XM_047441603.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 447,
"aa_ref": "L",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1344,
"cds_start": 861,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441606.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Leu287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297562.1",
"strand": false,
"transcript": "XM_047441606.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "L",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7790,
"cdna_start": 5065,
"cds_end": null,
"cds_length": 1173,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011530513.3",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.366G>A",
"hgvs_p": "p.Leu122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528815.1",
"strand": false,
"transcript": "XM_011530513.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": null,
"cds_end": null,
"cds_length": 1992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676126.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1451+11590G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501966.1",
"strand": false,
"transcript": "ENST00000676126.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 506,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6058,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609799.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1451+11590G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476415.2",
"strand": false,
"transcript": "ENST00000609799.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5261,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000674543.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.1464G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501590.1",
"strand": false,
"transcript": "ENST00000674543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000674708.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.1122G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000674708.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000674816.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.1272G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000674816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675382.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.1300G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501800.1",
"strand": false,
"transcript": "ENST00000675382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676031.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.*46G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501663.1",
"strand": false,
"transcript": "ENST00000676031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_002958722.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.2028G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_002958722.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XR_007067993.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.2091G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007067993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4812,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XR_007067994.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.2091G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007067994.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676031.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "n.*46G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501663.1",
"strand": false,
"transcript": "ENST00000676031.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1361522471",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy type B6",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.172,
"pos": 33304495,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004737.7"
}
]
}