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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: 14-23990232-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23990232&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23990232,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198083.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "NM_198083.4",
"protein_id": "NP_932349.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 232,
"cds_start": 179,
"cds_end": null,
"cds_length": 699,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": "ENST00000335125.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198083.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000335125.11",
"protein_id": "ENSP00000334801.6",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 232,
"cds_start": 179,
"cds_end": null,
"cds_length": 699,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": "NM_198083.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335125.11"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000559411.5",
"protein_id": "ENSP00000453889.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 241,
"cds_start": 179,
"cds_end": null,
"cds_length": 728,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559411.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000870060.1",
"protein_id": "ENSP00000540119.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 235,
"cds_start": 179,
"cds_end": null,
"cds_length": 708,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870060.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000870058.1",
"protein_id": "ENSP00000540117.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 232,
"cds_start": 179,
"cds_end": null,
"cds_length": 699,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870058.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000870061.1",
"protein_id": "ENSP00000540120.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 232,
"cds_start": 179,
"cds_end": null,
"cds_length": 699,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870061.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000870062.1",
"protein_id": "ENSP00000540121.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 232,
"cds_start": 179,
"cds_end": null,
"cds_length": 699,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870062.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000870059.1",
"protein_id": "ENSP00000540118.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 198,
"cds_start": 179,
"cds_end": null,
"cds_length": 597,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870059.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000397071.5",
"protein_id": "ENSP00000380261.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 192,
"cds_start": 179,
"cds_end": null,
"cds_length": 579,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397071.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Val32Ala",
"transcript": "NM_001193635.1",
"protein_id": "NP_001180564.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 170,
"cds_start": 95,
"cds_end": null,
"cds_length": 513,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193635.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000537912.5",
"protein_id": "ENSP00000439942.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 157,
"cds_start": 179,
"cds_end": null,
"cds_length": 474,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537912.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000558753.5",
"protein_id": "ENSP00000453845.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 157,
"cds_start": 179,
"cds_end": null,
"cds_length": 474,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558753.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.-125T>C",
"hgvs_p": null,
"transcript": "NM_001193636.1",
"protein_id": "NP_001180565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.-125T>C",
"hgvs_p": null,
"transcript": "ENST00000543805.6",
"protein_id": "ENSP00000441433.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543805.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.-125T>C",
"hgvs_p": null,
"transcript": "NM_001193637.1",
"protein_id": "NP_001180566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.-125T>C",
"hgvs_p": null,
"transcript": "ENST00000534993.5",
"protein_id": "ENSP00000441095.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534993.5"
},
{
"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": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "c.-378T>C",
"hgvs_p": null,
"transcript": "ENST00000559387.5",
"protein_id": "ENSP00000453173.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559387.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4L1",
"gene_hgnc_id": null,
"hgvs_c": "n.402+19900T>C",
"hgvs_p": null,
"transcript": "ENST00000558293.7",
"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": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558293.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.213-49074A>G",
"hgvs_p": null,
"transcript": "ENST00000656462.1",
"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": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.158-49074A>G",
"hgvs_p": null,
"transcript": "ENST00000671464.1",
"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": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000671464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.71-49074A>G",
"hgvs_p": null,
"transcript": "ENST00000830183.1",
"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": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.68-49074A>G",
"hgvs_p": null,
"transcript": "ENST00000830184.1",
"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": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.61+46040A>G",
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"transcript": "ENST00000830185.1",
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"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": 868,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
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"transcript": "ENST00000830186.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830186.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"hgvs_c": "n.-59T>C",
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"transcript": "ENST00000557812.1",
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000557812.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.-19A>G",
"hgvs_p": null,
"transcript": "ENST00000654375.1",
"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": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.-12A>G",
"hgvs_p": null,
"transcript": "ENST00000830187.1",
"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": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830187.1"
}
],
"gene_symbol": "DHRS4L2",
"gene_hgnc_id": 19731,
"dbsnp": "rs529238562",
"frequency_reference_population": 0.0005612389,
"hom_count_reference_population": 18,
"allele_count_reference_population": 905,
"gnomad_exomes_af": 0.000580627,
"gnomad_genomes_af": 0.000374965,
"gnomad_exomes_ac": 848,
"gnomad_genomes_ac": 57,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.553838312625885,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.696,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.883,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198083.4",
"gene_symbol": "DHRS4L2",
"hgnc_id": 19731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000656462.1",
"gene_symbol": "DHRS4-AS1",
"hgnc_id": 23175,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.213-49074A>G",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000558293.7",
"gene_symbol": "DHRS4L1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.402+19900T>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
}