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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: 19-38946500-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38946500&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38946500,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_148169.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "NM_024907.7",
"protein_id": "NP_079183.4",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292852.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024907.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000292852.9",
"protein_id": "ENSP00000292852.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024907.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292852.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269547",
"gene_hgnc_id": null,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Ala81Thr",
"transcript": "ENST00000599996.1",
"protein_id": "ENSP00000472465.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 587,
"cds_start": 241,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599996.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Ala191Thr",
"transcript": "ENST00000939441.1",
"protein_id": "ENSP00000609500.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 292,
"cds_start": 571,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939441.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr",
"transcript": "NM_148169.3",
"protein_id": "NP_680474.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 287,
"cds_start": 556,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148169.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000595329.5",
"protein_id": "ENSP00000470361.1",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595329.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856598.1",
"protein_id": "ENSP00000526657.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856598.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856599.1",
"protein_id": "ENSP00000526658.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856599.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856600.1",
"protein_id": "ENSP00000526659.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856600.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856601.1",
"protein_id": "ENSP00000526660.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856601.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856602.1",
"protein_id": "ENSP00000526661.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856602.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856603.1",
"protein_id": "ENSP00000526662.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856603.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856604.1",
"protein_id": "ENSP00000526663.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856604.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856605.1",
"protein_id": "ENSP00000526664.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856605.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856606.1",
"protein_id": "ENSP00000526665.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856606.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856607.1",
"protein_id": "ENSP00000526666.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856607.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000856608.1",
"protein_id": "ENSP00000526667.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856608.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000939439.1",
"protein_id": "ENSP00000609498.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939439.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000939442.1",
"protein_id": "ENSP00000609501.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939442.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000944470.1",
"protein_id": "ENSP00000614529.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944470.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000944471.1",
"protein_id": "ENSP00000614530.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944471.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000944472.1",
"protein_id": "ENSP00000614531.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 529,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944472.1"
},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000599598.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "FBXO17",
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"transcript": "ENST00000939440.1",
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"biotype": "protein_coding",
"feature": "ENST00000939440.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FBXO17",
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"hgvs_c": "n.*33G>A",
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"transcript": "ENST00000596025.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596025.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FBXO17",
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"biotype": "retained_intron",
"feature": "ENST00000597696.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FBXO17",
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"transcript": "ENST00000599418.1",
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"biotype": "retained_intron",
"feature": "ENST00000599418.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FBXO17",
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"transcript": "ENST00000601394.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601394.1"
},
{
"aa_ref": null,
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"gene_symbol": "FBXO17",
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"hgvs_c": "n.741G>A",
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"transcript": "NR_104026.2",
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"cds_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104026.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "FBXO17",
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"hgvs_c": "n.*33G>A",
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"transcript": "ENST00000596025.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596025.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 4,
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"gene_symbol": "FBXO17",
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"hgvs_c": "n.*897G>A",
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"transcript": "ENST00000601394.1",
"protein_id": "ENSP00000469852.1",
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601394.1"
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],
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"dbsnp": "rs763081172",
"frequency_reference_population": 0.000009913628,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889344,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09712022542953491,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.281,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_148169.3",
"gene_symbol": "FBXO17",
"hgnc_id": 18754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599996.1",
"gene_symbol": "ENSG00000269547",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Ala81Thr"
}
],
"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
}