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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: 18-50715115-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50715115&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50715115,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001292039.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "NM_002747.4",
"protein_id": "NP_002738.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400384.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002747.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000400384.7",
"protein_id": "ENSP00000383234.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002747.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400384.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000592595.5",
"protein_id": "ENSP00000466233.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 233,
"cds_start": 583,
"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": "ENST00000592595.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.-51C>T",
"hgvs_p": null,
"transcript": "NM_001292039.2",
"protein_id": "NP_001278968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292039.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.-51C>T",
"hgvs_p": null,
"transcript": "ENST00000540640.3",
"protein_id": "ENSP00000439231.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540640.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903334.1",
"protein_id": "ENSP00000573394.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903334.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903337.1",
"protein_id": "ENSP00000573397.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903337.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903340.1",
"protein_id": "ENSP00000573399.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903340.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903342.1",
"protein_id": "ENSP00000573401.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903342.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903345.1",
"protein_id": "ENSP00000573404.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903345.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903347.1",
"protein_id": "ENSP00000573406.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903347.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000942366.1",
"protein_id": "ENSP00000612425.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942366.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000942367.1",
"protein_id": "ENSP00000612426.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942367.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "ENST00000903348.1",
"protein_id": "ENSP00000573407.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 533,
"cds_start": 583,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "NM_001292040.2",
"protein_id": "NP_001278969.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 233,
"cds_start": 583,
"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": "NM_001292040.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_005258299.4",
"protein_id": "XP_005258356.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258299.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_011526074.3",
"protein_id": "XP_011524376.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526074.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_011526075.4",
"protein_id": "XP_011524377.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526075.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_011526076.3",
"protein_id": "XP_011524378.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526076.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_017025839.3",
"protein_id": "XP_016881328.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025839.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Cys",
"transcript": "XM_047437625.1",
"protein_id": "XP_047293581.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 587,
"cds_start": 583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437625.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_011526077.2",
"protein_id": "XP_011524379.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 412,
"cds_start": 58,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526077.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.-51C>T",
"hgvs_p": null,
"transcript": "NM_001292039.2",
"protein_id": "NP_001278968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292039.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"hgvs_c": "c.-51C>T",
"hgvs_p": null,
"transcript": "ENST00000540640.3",
"protein_id": "ENSP00000439231.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540640.3"
}
],
"gene_symbol": "MAPK4",
"gene_hgnc_id": 6878,
"dbsnp": "rs532503517",
"frequency_reference_population": 0.00007187122,
"hom_count_reference_population": 2,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.0000738793,
"gnomad_genomes_af": 0.0000525783,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19805529713630676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.3266,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.264,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001292039.2",
"gene_symbol": "MAPK4",
"hgnc_id": 6878,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-51C>T",
"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
}