← 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: X-154352589-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154352589&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"hgvs_c": "c.6466G>A",
"hgvs_p": "p.Val2156Ile",
"inheritance_mode": "XL,AD,AR,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001110556.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.0737,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " X-linked dominant, periventricular, type II,Connective tissue disorder,FLNA-related disorder,Frontometaphyseal dysplasia,Heterotopia,Melnick-Needles syndrome,Oto-palato-digital syndrome",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08607113361358643,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "V",
"aa_start": 2156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 6711,
"cds_end": null,
"cds_length": 7944,
"cds_start": 6466,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001110556.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6466G>A",
"hgvs_p": "p.Val2156Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369850.10",
"protein_coding": true,
"protein_id": "NP_001104026.1",
"strand": false,
"transcript": "NM_001110556.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "V",
"aa_start": 2156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 6711,
"cds_end": null,
"cds_length": 7944,
"cds_start": 6466,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000369850.10",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6466G>A",
"hgvs_p": "p.Val2156Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110556.2",
"protein_coding": true,
"protein_id": "ENSP00000358866.3",
"strand": false,
"transcript": "ENST00000369850.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "V",
"aa_start": 2148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8278,
"cdna_start": 6480,
"cds_end": null,
"cds_length": 7920,
"cds_start": 6442,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000360319.9",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6442G>A",
"hgvs_p": "p.Val2148Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353467.4",
"strand": false,
"transcript": "ENST00000360319.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "V",
"aa_start": 2129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8240,
"cdna_start": 6443,
"cds_end": null,
"cds_length": 7863,
"cds_start": 6385,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000369856.8",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6385G>A",
"hgvs_p": "p.Val2129Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358872.4",
"strand": false,
"transcript": "ENST00000369856.8",
"transcript_support_level": 1
},
{
"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": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000490936.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.2455G>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": "ENST00000490936.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2650,
"aa_ref": "V",
"aa_start": 2159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8520,
"cdna_start": 6724,
"cds_end": null,
"cds_length": 7953,
"cds_start": 6475,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000888339.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Val2159Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558398.1",
"strand": false,
"transcript": "ENST00000888339.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "V",
"aa_start": 2151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 6694,
"cds_end": null,
"cds_length": 7929,
"cds_start": 6451,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000888343.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6451G>A",
"hgvs_p": "p.Val2151Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558402.1",
"strand": false,
"transcript": "ENST00000888343.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "V",
"aa_start": 2148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 6687,
"cds_end": null,
"cds_length": 7920,
"cds_start": 6442,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001456.4",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6442G>A",
"hgvs_p": "p.Val2148Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001447.2",
"strand": false,
"transcript": "NM_001456.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "V",
"aa_start": 2147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 6684,
"cds_end": null,
"cds_length": 7917,
"cds_start": 6439,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000888340.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6439G>A",
"hgvs_p": "p.Val2147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558399.1",
"strand": false,
"transcript": "ENST00000888340.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "V",
"aa_start": 2148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 6687,
"cds_end": null,
"cds_length": 7917,
"cds_start": 6442,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000964813.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6442G>A",
"hgvs_p": "p.Val2148Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634872.1",
"strand": false,
"transcript": "ENST00000964813.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "V",
"aa_start": 2140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8461,
"cdna_start": 6663,
"cds_end": null,
"cds_length": 7896,
"cds_start": 6418,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000888341.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6418G>A",
"hgvs_p": "p.Val2140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558400.1",
"strand": false,
"transcript": "ENST00000888341.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2607,
"aa_ref": "V",
"aa_start": 2116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 6595,
"cds_end": null,
"cds_length": 7824,
"cds_start": 6346,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000888338.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6346G>A",
"hgvs_p": "p.Val2116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558397.1",
"strand": false,
"transcript": "ENST00000888338.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2572,
"aa_ref": "V",
"aa_start": 2081,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": 6352,
"cds_end": null,
"cds_length": 7719,
"cds_start": 6241,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000934717.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6241G>A",
"hgvs_p": "p.Val2081Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604776.1",
"strand": false,
"transcript": "ENST00000934717.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2450,
"aa_ref": "V",
"aa_start": 1959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7914,
"cdna_start": 6118,
"cds_end": null,
"cds_length": 7353,
"cds_start": 5875,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000888342.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5875G>A",
"hgvs_p": "p.Val1959Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558401.1",
"strand": false,
"transcript": "ENST00000888342.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2317,
"aa_ref": "V",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": 5717,
"cds_end": null,
"cds_length": 6954,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000888344.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5476G>A",
"hgvs_p": "p.Val1826Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558403.1",
"strand": false,
"transcript": "ENST00000888344.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1574,
"aa_ref": "V",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5083,
"cdna_start": 3285,
"cds_end": null,
"cds_length": 4725,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000422373.6",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Val1083Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416926.2",
"strand": false,
"transcript": "ENST00000422373.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 989,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": null,
"cds_end": null,
"cds_length": 2970,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964814.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.2065-1563G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634873.1",
"strand": false,
"transcript": "ENST00000964814.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444578.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.323-142G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397824.1",
"strand": false,
"transcript": "ENST00000444578.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 435,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673639.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.278-3899G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501210.2",
"strand": false,
"transcript": "ENST00000673639.2",
"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": 704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000415241.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405458.1",
"strand": false,
"transcript": "ENST00000415241.1",
"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": 8225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000420627.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*4607G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408921.1",
"strand": false,
"transcript": "ENST00000420627.5",
"transcript_support_level": 5
},
{
"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": 828,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466325.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.777G>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": "ENST00000466325.1",
"transcript_support_level": 2
},
{
"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": 696,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000474358.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.99G>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": "ENST00000474358.5",
"transcript_support_level": 2
},
{
"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": 8319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000610817.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5074G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480593.2",
"strand": false,
"transcript": "ENST00000610817.5",
"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": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000676696.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5074G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503392.1",
"strand": false,
"transcript": "ENST00000676696.1",
"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": 3982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678304.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.1645G>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": "ENST00000678304.1",
"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": 704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000415241.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405458.1",
"strand": false,
"transcript": "ENST00000415241.1",
"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": 8225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000420627.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*4607G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408921.1",
"strand": false,
"transcript": "ENST00000420627.5",
"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": 8319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000610817.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5074G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480593.2",
"strand": false,
"transcript": "ENST00000610817.5",
"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": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 47,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000676696.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5074G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503392.1",
"strand": false,
"transcript": "ENST00000676696.1",
"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": 368,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498411.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.67+228G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000498411.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs367655833",
"effect": "missense_variant",
"frequency_reference_population": 0.000014043934,
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"gnomad_exomes_ac": 14,
"gnomad_exomes_af": 0.0000127558,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000265611,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Connective tissue disorder|Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome|FLNA-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.049,
"pos": 154352589,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.036,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.20000000298023224,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.2,
"transcript": "NM_001110556.2"
}
]
}