← Back to variant description
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: 22-30663783-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30663783&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30663783,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152511.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "NM_152511.5",
"protein_id": "NP_689724.3",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334679.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152511.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000334679.4",
"protein_id": "ENSP00000333917.3",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152511.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334679.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000404885.5",
"protein_id": "ENSP00000385463.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404885.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35E4",
"gene_hgnc_id": 17058,
"hgvs_c": "c.548-1710G>A",
"hgvs_p": null,
"transcript": "ENST00000451479.1",
"protein_id": "ENSP00000413552.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451479.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.166-55C>T",
"hgvs_p": null,
"transcript": "ENST00000403268.1",
"protein_id": "ENSP00000384946.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403268.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "NM_001304794.2",
"protein_id": "NP_001291723.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304794.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "NM_001304795.2",
"protein_id": "NP_001291724.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304795.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000407308.1",
"protein_id": "ENSP00000386063.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407308.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866296.1",
"protein_id": "ENSP00000536355.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866296.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866297.1",
"protein_id": "ENSP00000536356.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866297.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866298.1",
"protein_id": "ENSP00000536357.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866298.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866299.1",
"protein_id": "ENSP00000536358.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866299.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866300.1",
"protein_id": "ENSP00000536359.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866300.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866301.1",
"protein_id": "ENSP00000536360.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866301.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000866302.1",
"protein_id": "ENSP00000536361.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866302.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000912603.1",
"protein_id": "ENSP00000582662.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912603.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000912604.1",
"protein_id": "ENSP00000582663.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912604.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000965881.1",
"protein_id": "ENSP00000635940.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965881.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000965882.1",
"protein_id": "ENSP00000635941.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965882.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000965883.1",
"protein_id": "ENSP00000635942.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965883.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000965884.1",
"protein_id": "ENSP00000635943.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965884.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "ENST00000342474.4",
"protein_id": "ENSP00000340795.4",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 162,
"cds_start": 221,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342474.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_005261368.6",
"protein_id": "XP_005261425.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261368.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_011529921.4",
"protein_id": "XP_011528223.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529921.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_017028627.3",
"protein_id": "XP_016884116.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028627.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_017028628.2",
"protein_id": "XP_016884117.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028628.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_047441158.1",
"protein_id": "XP_047297114.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441158.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_047441159.1",
"protein_id": "XP_047297115.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 188,
"cds_start": 221,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441159.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35E4",
"gene_hgnc_id": 17058,
"hgvs_c": "c.620-1710G>A",
"hgvs_p": null,
"transcript": "NM_001318371.2",
"protein_id": "NP_001305300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318371.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.166-55C>T",
"hgvs_p": null,
"transcript": "NM_001304796.2",
"protein_id": "NP_001291725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304796.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "n.221C>T",
"hgvs_p": null,
"transcript": "ENST00000377087.3",
"protein_id": "ENSP00000366291.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000377087.3"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "n.558+3024C>T",
"hgvs_p": null,
"transcript": "ENST00000461301.1",
"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": "ENST00000461301.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "n.657-55C>T",
"hgvs_p": null,
"transcript": "XR_001755171.3",
"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": "XR_001755171.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000442752.1",
"protein_id": "ENSP00000403378.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 10,
"cds_start": null,
"cds_end": null,
"cds_length": 33,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442752.1"
}
],
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"dbsnp": "rs200899592",
"frequency_reference_population": 0.00017717778,
"hom_count_reference_population": 0,
"allele_count_reference_population": 286,
"gnomad_exomes_af": 0.000177168,
"gnomad_genomes_af": 0.000177272,
"gnomad_exomes_ac": 259,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09564495086669922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.305,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.915,
"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_152511.5",
"gene_symbol": "DUSP18",
"hgnc_id": 18484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001318371.2",
"gene_symbol": "SLC35E4",
"hgnc_id": 17058,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.620-1710G>A",
"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
}