← 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: 7-102913171-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=102913171&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 102913171,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394494.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "NM_001394494.2",
"protein_id": "NP_001381423.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 825,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394494.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "ENST00000440067.4",
"protein_id": "ENSP00000390126.2",
"transcript_support_level": 3,
"aa_start": 398,
"aa_end": null,
"aa_length": 825,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394494.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440067.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null,
"transcript": "NM_001031692.3",
"protein_id": "NP_001026862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339431.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031692.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null,
"transcript": "ENST00000339431.9",
"protein_id": "ENSP00000344242.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031692.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339431.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null,
"transcript": "ENST00000249377.4",
"protein_id": "ENSP00000249377.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249377.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000379305.7",
"protein_id": "ENSP00000368607.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379305.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.1193G>A",
"hgvs_p": null,
"transcript": "ENST00000448002.6",
"protein_id": "ENSP00000405434.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448002.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000455112.7",
"protein_id": "ENSP00000391550.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455112.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000456695.6",
"protein_id": "ENSP00000409716.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456695.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000379305.7",
"protein_id": "ENSP00000368607.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379305.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000455112.7",
"protein_id": "ENSP00000391550.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455112.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000456695.6",
"protein_id": "ENSP00000409716.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456695.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-883C>T",
"hgvs_p": null,
"transcript": "XM_047419717.1",
"protein_id": "XP_047275673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419717.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "ENST00000965689.1",
"protein_id": "ENSP00000635748.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 780,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965689.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_145032.3",
"protein_id": "NP_659469.3",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 735,
"cds_start": 923,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145032.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000313221.8",
"protein_id": "ENSP00000321927.4",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 735,
"cds_start": 923,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313221.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001287150.2",
"protein_id": "NP_001274079.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 707,
"cds_start": 923,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287150.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001111038.2",
"protein_id": "NP_001104508.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 690,
"cds_start": 923,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111038.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "ENST00000694871.1",
"protein_id": "ENSP00000511554.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 584,
"cds_start": 470,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694871.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "NM_001438453.1",
"protein_id": "NP_001425382.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 539,
"cds_start": 470,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438453.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "ENST00000694870.1",
"protein_id": "ENSP00000511553.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 539,
"cds_start": 470,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694870.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "XM_017011850.3",
"protein_id": "XP_016867339.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 822,
"cds_start": 1184,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011850.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_017011851.3",
"protein_id": "XP_016867340.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 809,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011851.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_011515928.4",
"protein_id": "XP_011514230.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 797,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515928.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_005250207.5",
"protein_id": "XP_005250264.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 792,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250207.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_011515929.4",
"protein_id": "XP_011514231.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 783,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515929.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_005250208.5",
"protein_id": "XP_005250265.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 780,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250208.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_017011852.2",
"protein_id": "XP_016867341.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 780,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011852.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_047420043.1",
"protein_id": "XP_047275999.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 771,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420043.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "XM_011515930.3",
"protein_id": "XP_011514232.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 735,
"cds_start": 923,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515930.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "XM_017011853.2",
"protein_id": "XP_016867342.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 735,
"cds_start": 923,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011853.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "XM_011515932.4",
"protein_id": "XP_011514234.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 639,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515932.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "XM_006715898.4",
"protein_id": "XP_006715961.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 584,
"cds_start": 470,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715898.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "XM_047420044.1",
"protein_id": "XP_047276000.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 550,
"cds_start": 368,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420044.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "XM_047420045.1",
"protein_id": "XP_047276001.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 506,
"cds_start": 470,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-883C>T",
"hgvs_p": null,
"transcript": "XM_047419717.1",
"protein_id": "XP_047275673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+21C>T",
"hgvs_p": null,
"transcript": "ENST00000875757.1",
"protein_id": "ENSP00000545816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null,
"transcript": "ENST00000965933.1",
"protein_id": "ENSP00000635992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null,
"transcript": "NM_005824.3",
"protein_id": "NP_005815.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005824.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "c.-660+26C>T",
"hgvs_p": null,
"transcript": "XM_005250108.2",
"protein_id": "XP_005250165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250108.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.1183G>A",
"hgvs_p": null,
"transcript": "ENST00000436908.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000436908.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*141G>A",
"hgvs_p": null,
"transcript": "ENST00000477915.5",
"protein_id": "ENSP00000511555.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477915.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.1219G>A",
"hgvs_p": null,
"transcript": "NR_105043.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105043.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.1219G>A",
"hgvs_p": null,
"transcript": "XR_927410.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_927410.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*141G>A",
"hgvs_p": null,
"transcript": "ENST00000477915.5",
"protein_id": "ENSP00000511555.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477915.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC17",
"gene_hgnc_id": 16895,
"hgvs_c": "n.146+26C>T",
"hgvs_p": null,
"transcript": "ENST00000498487.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498487.1"
}
],
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"dbsnp": "rs777670765",
"frequency_reference_population": 0.000016108208,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000150493,
"gnomad_genomes_af": 0.0000262771,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07255274057388306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.809,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394494.2",
"gene_symbol": "FBXL13",
"hgnc_id": 21658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031692.3",
"gene_symbol": "LRRC17",
"hgnc_id": 16895,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-141+26C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}