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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: 10-133355799-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133355799&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133355799,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001098483.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "NM_001098483.3",
"protein_id": "NP_001091953.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 154,
"cds_start": 337,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278025.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098483.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "ENST00000278025.9",
"protein_id": "ENSP00000278025.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 154,
"cds_start": 337,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098483.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278025.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "ENST00000368552.8",
"protein_id": "ENSP00000357540.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 134,
"cds_start": 337,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368552.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.589A>G",
"hgvs_p": "p.Lys197Glu",
"transcript": "ENST00000863242.1",
"protein_id": "ENSP00000533301.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 238,
"cds_start": 589,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863242.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "ENST00000863241.1",
"protein_id": "ENSP00000533300.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 176,
"cds_start": 370,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863241.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "ENST00000863239.1",
"protein_id": "ENSP00000533298.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 165,
"cds_start": 370,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863239.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "ENST00000863240.1",
"protein_id": "ENSP00000533299.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 165,
"cds_start": 337,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863240.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Lys112Glu",
"transcript": "ENST00000916332.1",
"protein_id": "ENSP00000586391.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 153,
"cds_start": 334,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916332.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "ENST00000850601.1",
"protein_id": "ENSP00000520888.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 137,
"cds_start": 337,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850601.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "NM_198472.3",
"protein_id": "NP_940874.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 134,
"cds_start": 337,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198472.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Lys90Glu",
"transcript": "NM_001301827.2",
"protein_id": "NP_001288756.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 131,
"cds_start": 268,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301827.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Lys86Glu",
"transcript": "ENST00000447176.5",
"protein_id": "ENSP00000413379.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 127,
"cds_start": 256,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447176.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Lys80Glu",
"transcript": "ENST00000916333.1",
"protein_id": "ENSP00000586392.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 121,
"cds_start": 238,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916333.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Lys68Glu",
"transcript": "NM_001301828.2",
"protein_id": "NP_001288757.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 109,
"cds_start": 202,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301828.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Lys68Glu",
"transcript": "ENST00000368551.1",
"protein_id": "ENSP00000357539.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 109,
"cds_start": 202,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368551.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "XM_011539670.3",
"protein_id": "XP_011537972.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 176,
"cds_start": 370,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539670.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "XM_011539671.3",
"protein_id": "XP_011537973.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 165,
"cds_start": 337,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539671.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "XM_011539672.3",
"protein_id": "XP_011537974.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 165,
"cds_start": 370,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539672.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "XM_011539673.3",
"protein_id": "XP_011537975.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 148,
"cds_start": 370,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539673.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Lys124Glu",
"transcript": "XM_011539674.3",
"protein_id": "XP_011537976.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 145,
"cds_start": 370,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539674.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"transcript": "XM_011539675.3",
"protein_id": "XP_011537977.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 137,
"cds_start": 337,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539675.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.235A>G",
"hgvs_p": "p.Lys79Glu",
"transcript": "XM_047425101.1",
"protein_id": "XP_047281057.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 131,
"cds_start": 235,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425101.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
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"hgvs_c": "c.202A>G",
"hgvs_p": "p.Lys68Glu",
"transcript": "XM_047425102.1",
"protein_id": "XP_047281058.1",
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"aa_start": 68,
"aa_end": null,
"aa_length": 120,
"cds_start": 202,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425102.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
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"hgvs_c": "c.235A>G",
"hgvs_p": "p.Lys79Glu",
"transcript": "XM_047425103.1",
"protein_id": "XP_047281059.1",
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"aa_start": 79,
"aa_end": null,
"aa_length": 120,
"cds_start": 235,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425103.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Lys68Glu",
"transcript": "XM_047425105.1",
"protein_id": "XP_047281061.1",
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"aa_start": 68,
"aa_end": null,
"aa_length": 109,
"cds_start": 202,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425105.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "n.538A>G",
"hgvs_p": null,
"transcript": "ENST00000465384.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465384.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"hgvs_c": "n.166A>G",
"hgvs_p": null,
"transcript": "ENST00000478895.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478895.1"
}
],
"gene_symbol": "FUOM",
"gene_hgnc_id": 24733,
"dbsnp": "rs375479477",
"frequency_reference_population": 0.00000434038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342319,
"gnomad_genomes_af": 0.0000131463,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09407764673233032,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.1339,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.37,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_001098483.3",
"gene_symbol": "FUOM",
"hgnc_id": 24733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu"
}
],
"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
}