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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: 3-112581009-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112581009&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112581009,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017945.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "NM_017945.5",
"protein_id": "NP_060415.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000492406.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017945.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000492406.6",
"protein_id": "ENSP00000417654.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_017945.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492406.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "NM_001348905.2",
"protein_id": "NP_001335834.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348905.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "NM_001348906.2",
"protein_id": "NP_001335835.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348906.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "NM_001348907.2",
"protein_id": "NP_001335836.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348907.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000890627.1",
"protein_id": "ENSP00000560686.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890627.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000890628.1",
"protein_id": "ENSP00000560687.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890628.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000890631.1",
"protein_id": "ENSP00000560690.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890631.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000890632.1",
"protein_id": "ENSP00000560691.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890632.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000890633.1",
"protein_id": "ENSP00000560692.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890633.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000931385.1",
"protein_id": "ENSP00000601444.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931385.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000931386.1",
"protein_id": "ENSP00000601445.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931386.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000931388.1",
"protein_id": "ENSP00000601447.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931388.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000931389.1",
"protein_id": "ENSP00000601448.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931389.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000959802.1",
"protein_id": "ENSP00000629861.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 892,
"cds_end": null,
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"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959802.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.793T>C",
"hgvs_p": "p.Phe265Leu",
"transcript": "ENST00000959803.1",
"protein_id": "ENSP00000629862.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 391,
"cds_start": 793,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959803.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.538T>C",
"hgvs_p": "p.Phe180Leu",
"transcript": "NM_001348908.2",
"protein_id": "NP_001335837.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 306,
"cds_start": 538,
"cds_end": null,
"cds_length": 921,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348908.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.529T>C",
"hgvs_p": "p.Phe177Leu",
"transcript": "NM_001348909.2",
"protein_id": "NP_001335838.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 303,
"cds_start": 529,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348909.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.590-170T>C",
"hgvs_p": null,
"transcript": "NM_001348910.2",
"protein_id": "NP_001335839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348910.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.590-170T>C",
"hgvs_p": null,
"transcript": "ENST00000261034.6",
"protein_id": "ENSP00000261034.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
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"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261034.6"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.429-170T>C",
"hgvs_p": null,
"transcript": "ENST00000890629.1",
"protein_id": "ENSP00000560688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890629.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.429-170T>C",
"hgvs_p": null,
"transcript": "ENST00000890630.1",
"protein_id": "ENSP00000560689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890630.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
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"hgvs_c": "c.589+303T>C",
"hgvs_p": null,
"transcript": "NM_001348911.2",
"protein_id": "NP_001335840.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348911.2"
},
{
"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": 7,
"intron_rank": 5,
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"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "c.429-236T>C",
"hgvs_p": null,
"transcript": "ENST00000931387.1",
"protein_id": "ENSP00000601446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931387.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "n.704T>C",
"hgvs_p": null,
"transcript": "ENST00000460713.5",
"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": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460713.5"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"hgvs_c": "n.699-236T>C",
"hgvs_p": null,
"transcript": "ENST00000494706.2",
"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": 840,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494706.2"
}
],
"gene_symbol": "SLC35A5",
"gene_hgnc_id": 20792,
"dbsnp": "rs1385981304",
"frequency_reference_population": 0.000008674274,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000410455,
"gnomad_genomes_af": 0.0000525714,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2425793707370758,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.2944,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.627,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_017945.5",
"gene_symbol": "SLC35A5",
"hgnc_id": 20792,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892T>C",
"hgvs_p": "p.Phe298Leu"
}
],
"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
}