← 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: 17-79115653-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79115653&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RBFOX3",
"hgnc_id": 27097,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001385804.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 2563,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Idiopathic generalized epilepsy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350451.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000693108.1",
"protein_coding": true,
"protein_id": "NP_001337380.1",
"strand": false,
"transcript": "NM_001350451.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000693108.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001350451.2",
"protein_coding": true,
"protein_id": "ENSP00000510395.1",
"strand": false,
"transcript": "ENST00000693108.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 391,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1176,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857749.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527808.1",
"strand": false,
"transcript": "ENST00000857749.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385804.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372733.1",
"strand": false,
"transcript": "NM_001385804.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385805.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372734.1",
"strand": false,
"transcript": "NM_001385805.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 372,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1119,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385806.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372735.1",
"strand": false,
"transcript": "NM_001385806.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385807.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372736.1",
"strand": false,
"transcript": "NM_001385807.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385808.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372737.1",
"strand": false,
"transcript": "NM_001385808.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385809.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372738.1",
"strand": false,
"transcript": "NM_001385809.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385810.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372739.1",
"strand": false,
"transcript": "NM_001385810.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385811.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372740.1",
"strand": false,
"transcript": "NM_001385811.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385812.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372741.1",
"strand": false,
"transcript": "NM_001385812.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385813.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372742.1",
"strand": false,
"transcript": "NM_001385813.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385814.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372743.1",
"strand": false,
"transcript": "NM_001385814.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385815.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372744.1",
"strand": false,
"transcript": "NM_001385815.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385816.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372745.1",
"strand": false,
"transcript": "NM_001385816.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385817.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372746.1",
"strand": false,
"transcript": "NM_001385817.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385818.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372747.1",
"strand": false,
"transcript": "NM_001385818.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385819.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372748.1",
"strand": false,
"transcript": "NM_001385819.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385820.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372749.1",
"strand": false,
"transcript": "NM_001385820.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1080,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385821.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372750.1",
"strand": false,
"transcript": "NM_001385821.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1077,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385822.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372751.1",
"strand": false,
"transcript": "NM_001385822.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1077,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385823.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372752.1",
"strand": false,
"transcript": "NM_001385823.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 382,
"cds_end": null,
"cds_length": 1077,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000583458.5",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464186.1",
"strand": false,
"transcript": "ENST00000583458.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 328,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 608,
"cds_end": null,
"cds_length": 987,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385824.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372753.1",
"strand": false,
"transcript": "NM_001385824.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 328,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": 136,
"cds_end": null,
"cds_length": 987,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000582043.5",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463964.1",
"strand": false,
"transcript": "ENST00000582043.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 328,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": 411,
"cds_end": null,
"cds_length": 987,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954789.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624848.1",
"strand": false,
"transcript": "ENST00000954789.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 326,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 608,
"cds_end": null,
"cds_length": 981,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385825.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372754.1",
"strand": false,
"transcript": "NM_001385825.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 326,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 777,
"cds_end": null,
"cds_length": 981,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385826.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372755.1",
"strand": false,
"transcript": "NM_001385826.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 325,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 480,
"cds_end": null,
"cds_length": 978,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000584778.5",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462007.1",
"strand": false,
"transcript": "ENST00000584778.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 319,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 608,
"cds_end": null,
"cds_length": 960,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385827.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372756.1",
"strand": false,
"transcript": "NM_001385827.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 548,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001082575.3",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001076044.1",
"strand": false,
"transcript": "NM_001082575.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 568,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350453.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337382.1",
"strand": false,
"transcript": "NM_001350453.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 608,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385828.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372757.1",
"strand": false,
"transcript": "NM_001385828.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 777,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385829.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372758.1",
"strand": false,
"transcript": "NM_001385829.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 681,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385830.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372759.1",
"strand": false,
"transcript": "NM_001385830.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 478,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385831.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372760.1",
"strand": false,
"transcript": "NM_001385831.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 873,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385832.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372761.1",
"strand": false,
"transcript": "NM_001385832.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 449,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385833.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372762.1",
"strand": false,
"transcript": "NM_001385833.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385834.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372763.1",
"strand": false,
"transcript": "NM_001385834.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 435,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385835.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372764.1",
"strand": false,
"transcript": "NM_001385835.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 496,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385836.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372765.1",
"strand": false,
"transcript": "NM_001385836.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385837.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372766.1",
"strand": false,
"transcript": "NM_001385837.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 469,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385838.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372767.1",
"strand": false,
"transcript": "NM_001385838.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 797,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385839.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372768.1",
"strand": false,
"transcript": "NM_001385839.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 473,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385840.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372769.1",
"strand": false,
"transcript": "NM_001385840.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 605,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385841.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372770.1",
"strand": false,
"transcript": "NM_001385841.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 547,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385842.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372771.1",
"strand": false,
"transcript": "NM_001385842.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 576,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000580155.5",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463653.1",
"strand": false,
"transcript": "ENST00000580155.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 815,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857744.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527803.1",
"strand": false,
"transcript": "ENST00000857744.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 743,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857745.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527804.1",
"strand": false,
"transcript": "ENST00000857745.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 531,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857755.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527814.1",
"strand": false,
"transcript": "ENST00000857755.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857756.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527815.1",
"strand": false,
"transcript": "ENST00000857756.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 542,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857757.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527816.1",
"strand": false,
"transcript": "ENST00000857757.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 393,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857758.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527817.1",
"strand": false,
"transcript": "ENST00000857758.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 774,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954784.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624843.1",
"strand": false,
"transcript": "ENST00000954784.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 741,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954787.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624846.1",
"strand": false,
"transcript": "ENST00000954787.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 580,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954790.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624849.1",
"strand": false,
"transcript": "ENST00000954790.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 596,
"cds_end": null,
"cds_length": 939,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954791.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624850.1",
"strand": false,
"transcript": "ENST00000954791.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 681,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385843.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372772.1",
"strand": false,
"transcript": "NM_001385843.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 737,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385844.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372773.1",
"strand": false,
"transcript": "NM_001385844.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 705,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385845.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372774.1",
"strand": false,
"transcript": "NM_001385845.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 608,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385846.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372775.1",
"strand": false,
"transcript": "NM_001385846.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 687,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857746.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527805.1",
"strand": false,
"transcript": "ENST00000857746.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 584,
"cds_end": null,
"cds_length": 936,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954785.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624844.1",
"strand": false,
"transcript": "ENST00000954785.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 310,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 615,
"cds_end": null,
"cds_length": 933,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917333.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587392.1",
"strand": false,
"transcript": "ENST00000917333.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 658,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857747.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527806.1",
"strand": false,
"transcript": "ENST00000857747.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 702,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857754.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527813.1",
"strand": false,
"transcript": "ENST00000857754.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 691,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917331.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587390.1",
"strand": false,
"transcript": "ENST00000917331.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 736,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954788.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624847.1",
"strand": false,
"transcript": "ENST00000954788.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 280,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 605,
"cds_end": null,
"cds_length": 843,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857750.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527809.1",
"strand": false,
"transcript": "ENST00000857750.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 266,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 640,
"cds_end": null,
"cds_length": 801,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857748.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527807.1",
"strand": false,
"transcript": "ENST00000857748.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 681,
"cds_end": null,
"cds_length": 792,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385847.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372776.1",
"strand": false,
"transcript": "NM_001385847.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 605,
"cds_end": null,
"cds_length": 792,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857752.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527811.1",
"strand": false,
"transcript": "ENST00000857752.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 565,
"cds_end": null,
"cds_length": 792,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857753.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527812.1",
"strand": false,
"transcript": "ENST00000857753.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 235,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 568,
"cds_end": null,
"cds_length": 708,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954786.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624845.1",
"strand": false,
"transcript": "ENST00000954786.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 217,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": 631,
"cds_end": null,
"cds_length": 654,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857751.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527810.1",
"strand": false,
"transcript": "ENST00000857751.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011524360.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522662.1",
"strand": false,
"transcript": "XM_011524360.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017024208.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879697.1",
"strand": false,
"transcript": "XM_017024208.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024450592.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306360.1",
"strand": false,
"transcript": "XM_024450592.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024450593.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306361.1",
"strand": false,
"transcript": "XM_024450593.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024450595.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306363.1",
"strand": false,
"transcript": "XM_024450595.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 373,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1122,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024450596.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306364.1",
"strand": false,
"transcript": "XM_024450596.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 342,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1029,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017024209.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879698.1",
"strand": false,
"transcript": "XM_017024209.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 325,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 608,
"cds_end": null,
"cds_length": 978,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011524366.3",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522668.1",
"strand": false,
"transcript": "XM_011524366.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 295,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 608,
"cds_end": null,
"cds_length": 888,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011524367.3",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522669.1",
"strand": false,
"transcript": "XM_011524367.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 608,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017024211.3",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879700.1",
"strand": false,
"transcript": "XM_017024211.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 568,
"cds_end": null,
"cds_length": 846,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047435405.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Glu21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291361.1",
"strand": false,
"transcript": "XM_047435405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": null,
"cds_end": null,
"cds_length": 945,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648001.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.-73G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497797.1",
"strand": true,
"transcript": "ENST00000648001.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 51,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 260,
"cdna_start": null,
"cds_end": null,
"cds_length": 156,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580508.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.*45G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467872.1",
"strand": true,
"transcript": "ENST00000580508.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 154,
"cdna_start": null,
"cds_end": null,
"cds_length": 13,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582139.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.*50G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464946.1",
"strand": true,
"transcript": "ENST00000582139.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs565537117",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0019385914,
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"gnomad_exomes_ac": 2382,
"gnomad_exomes_af": 0.00200491,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_ac": 181,
"gnomad_genomes_af": 0.00135067,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Idiopathic generalized epilepsy",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.687,
"pos": 79115653,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001385804.1"
}
]
}