← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-98905610-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=98905610&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXL4",
"hgnc_id": 13601,
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_012160.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9866,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Mitochondrial DNA depletion syndrome 13",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9144200086593628,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278716.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369244.7",
"protein_coding": true,
"protein_id": "NP_001265645.1",
"strand": false,
"transcript": "NM_001278716.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369244.7",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278716.2",
"protein_coding": true,
"protein_id": "ENSP00000358247.1",
"strand": false,
"transcript": "ENST00000369244.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000229971.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229971.1",
"strand": false,
"transcript": "ENST00000229971.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 628,
"aa_ref": "C",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1887,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892543.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.940T>C",
"hgvs_p": "p.Cys314Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562602.1",
"strand": false,
"transcript": "ENST00000892543.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 628,
"aa_ref": "C",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1887,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945102.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.940T>C",
"hgvs_p": "p.Cys314Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615161.1",
"strand": false,
"transcript": "ENST00000945102.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7940,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_012160.5",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036292.2",
"strand": false,
"transcript": "NM_012160.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892540.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562599.1",
"strand": false,
"transcript": "ENST00000892540.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892542.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562601.1",
"strand": false,
"transcript": "ENST00000892542.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892550.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562609.1",
"strand": false,
"transcript": "ENST00000892550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892554.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562613.1",
"strand": false,
"transcript": "ENST00000892554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892560.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562619.1",
"strand": false,
"transcript": "ENST00000892560.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945098.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615157.1",
"strand": false,
"transcript": "ENST00000945098.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 619,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1860,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892552.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562611.1",
"strand": false,
"transcript": "ENST00000892552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 604,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1815,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892546.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562605.1",
"strand": false,
"transcript": "ENST00000892546.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 604,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1815,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892556.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562615.1",
"strand": false,
"transcript": "ENST00000892556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892539.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562598.1",
"strand": false,
"transcript": "ENST00000892539.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892541.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562600.1",
"strand": false,
"transcript": "ENST00000892541.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892548.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562607.1",
"strand": false,
"transcript": "ENST00000892548.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935939.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605998.1",
"strand": false,
"transcript": "ENST00000935939.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945100.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615159.1",
"strand": false,
"transcript": "ENST00000945100.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945101.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615160.1",
"strand": false,
"transcript": "ENST00000945101.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "C",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1596,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892544.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Cys217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562603.1",
"strand": false,
"transcript": "ENST00000892544.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "C",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1596,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945099.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Cys217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615158.1",
"strand": false,
"transcript": "ENST00000945099.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "C",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1515,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892558.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Cys190Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562617.1",
"strand": false,
"transcript": "ENST00000892558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "C",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1515,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945097.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Cys190Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615156.1",
"strand": false,
"transcript": "ENST00000945097.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7940,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017010726.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866215.1",
"strand": false,
"transcript": "XM_017010726.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20640,
"cdna_start": 13950,
"cds_end": null,
"cds_length": 1866,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418625.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274581.1",
"strand": false,
"transcript": "XM_047418625.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7986,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005266930.4",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266987.1",
"strand": false,
"transcript": "XM_005266930.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7868,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017010727.3",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866216.1",
"strand": false,
"transcript": "XM_017010727.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7868,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1794,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418626.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274582.1",
"strand": false,
"transcript": "XM_047418626.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "C",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1146,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418627.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274583.1",
"strand": false,
"transcript": "XM_047418627.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 379,
"aa_ref": "C",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7173,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1140,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047418628.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.193T>C",
"hgvs_p": "p.Cys65Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274584.1",
"strand": false,
"transcript": "XM_047418628.1",
"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": 7594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_103836.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "n.904T>C",
"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": "NR_103836.2",
"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": 3838,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_103837.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "n.904T>C",
"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": "NR_103837.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs757780723",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013682885,
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136829,
"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 13",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.027,
"pos": 98905610,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.707,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_012160.5"
}
]
}