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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: 9-96343953-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96343953&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 96343953,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007001.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Met212Thr",
"transcript": "NM_007001.3",
"protein_id": "NP_008932.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 337,
"cds_start": 635,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253270.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007001.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Met212Thr",
"transcript": "ENST00000253270.13",
"protein_id": "ENSP00000253270.7",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 337,
"cds_start": 635,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007001.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253270.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.488+7150T>C",
"hgvs_p": null,
"transcript": "ENST00000375259.9",
"protein_id": "ENSP00000364408.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375259.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285269",
"gene_hgnc_id": null,
"hgvs_c": "n.236T>C",
"hgvs_p": null,
"transcript": "ENST00000643789.1",
"protein_id": "ENSP00000494818.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643789.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Met253Thr",
"transcript": "ENST00000955257.1",
"protein_id": "ENSP00000625316.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 378,
"cds_start": 758,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955257.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Met248Thr",
"transcript": "ENST00000878040.1",
"protein_id": "ENSP00000548099.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 373,
"cds_start": 743,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878040.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000878036.1",
"protein_id": "ENSP00000548095.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 362,
"cds_start": 710,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878036.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.632T>C",
"hgvs_p": "p.Met211Thr",
"transcript": "ENST00000923824.1",
"protein_id": "ENSP00000593883.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 336,
"cds_start": 632,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923824.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Met253Thr",
"transcript": "ENST00000878038.1",
"protein_id": "ENSP00000548097.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 329,
"cds_start": 758,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878038.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Met189Thr",
"transcript": "ENST00000955259.1",
"protein_id": "ENSP00000625318.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 314,
"cds_start": 566,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955259.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000878042.1",
"protein_id": "ENSP00000548101.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 313,
"cds_start": 563,
"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": "ENST00000878042.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Met165Thr",
"transcript": "ENST00000878039.1",
"protein_id": "ENSP00000548098.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 290,
"cds_start": 494,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878039.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.464T>C",
"hgvs_p": "p.Met155Thr",
"transcript": "ENST00000955255.1",
"protein_id": "ENSP00000625314.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 280,
"cds_start": 464,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955255.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.461T>C",
"hgvs_p": "p.Met154Thr",
"transcript": "ENST00000955256.1",
"protein_id": "ENSP00000625315.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 279,
"cds_start": 461,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955256.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Met132Thr",
"transcript": "ENST00000878041.1",
"protein_id": "ENSP00000548100.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 257,
"cds_start": 395,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878041.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Met108Thr",
"transcript": "ENST00000923823.1",
"protein_id": "ENSP00000593882.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 233,
"cds_start": 323,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923823.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Met109Thr",
"transcript": "ENST00000490599.2",
"protein_id": "ENSP00000498151.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 192,
"cds_start": 326,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490599.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.488+7150T>C",
"hgvs_p": null,
"transcript": "NM_001286990.2",
"protein_id": "NP_001273919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286990.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.420+7150T>C",
"hgvs_p": null,
"transcript": "ENST00000955258.1",
"protein_id": "ENSP00000625317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.347+16201T>C",
"hgvs_p": null,
"transcript": "ENST00000878037.1",
"protein_id": "ENSP00000548096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "c.280-7169T>C",
"hgvs_p": null,
"transcript": "ENST00000923825.1",
"protein_id": "ENSP00000593884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "n.*412T>C",
"hgvs_p": null,
"transcript": "ENST00000650065.1",
"protein_id": "ENSP00000497899.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "n.712T>C",
"hgvs_p": null,
"transcript": "NR_104627.2",
"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_104627.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2-HSD17B3",
"gene_hgnc_id": null,
"hgvs_c": "n.712T>C",
"hgvs_p": null,
"transcript": "NR_182427.1",
"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_182427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"hgvs_c": "n.*412T>C",
"hgvs_p": null,
"transcript": "ENST00000650065.1",
"protein_id": "ENSP00000497899.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650065.1"
}
],
"gene_symbol": "SLC35D2",
"gene_hgnc_id": 20799,
"dbsnp": "rs1296856552",
"frequency_reference_population": 0.000004993826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000413875,
"gnomad_genomes_af": 0.0000131351,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8354927897453308,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5908,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.894,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007001.3",
"gene_symbol": "SLC35D2",
"hgnc_id": 20799,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Met212Thr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643789.1",
"gene_symbol": "ENSG00000285269",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.236T>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_182427.1",
"gene_symbol": "SLC35D2-HSD17B3",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.712T>C",
"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
}