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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: 19-12679523-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12679523&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12679523,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001930.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "NM_001930.4",
"protein_id": "NP_001921.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 612,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000210060.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001930.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000210060.12",
"protein_id": "ENSP00000210060.6",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 612,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001930.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210060.12"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000351660.9",
"protein_id": "ENSP00000221303.5",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 322,
"cds_start": 612,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351660.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "n.612T>C",
"hgvs_p": null,
"transcript": "ENST00000601537.5",
"protein_id": "ENSP00000472122.1",
"transcript_support_level": 1,
"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": "ENST00000601537.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285589",
"gene_hgnc_id": null,
"hgvs_c": "n.*157T>C",
"hgvs_p": null,
"transcript": "ENST00000648033.1",
"protein_id": "ENSP00000498000.1",
"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": "ENST00000648033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285589",
"gene_hgnc_id": null,
"hgvs_c": "n.*157T>C",
"hgvs_p": null,
"transcript": "ENST00000648033.1",
"protein_id": "ENSP00000498000.1",
"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": "ENST00000648033.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000949481.1",
"protein_id": "ENSP00000619540.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 612,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949481.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.603T>C",
"hgvs_p": "p.Ser201Ser",
"transcript": "ENST00000917713.1",
"protein_id": "ENSP00000587772.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 366,
"cds_start": 603,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917713.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "NM_001369691.1",
"protein_id": "NP_001356620.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 363,
"cds_start": 612,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369691.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Ser197Ser",
"transcript": "ENST00000862636.1",
"protein_id": "ENSP00000532695.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 362,
"cds_start": 591,
"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": "ENST00000862636.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000917717.1",
"protein_id": "ENSP00000587776.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 350,
"cds_start": 612,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917717.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.501T>C",
"hgvs_p": "p.Ser167Ser",
"transcript": "ENST00000949482.1",
"protein_id": "ENSP00000619541.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 332,
"cds_start": 501,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949482.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Ser162Ser",
"transcript": "NM_001206974.2",
"protein_id": "NP_001193903.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 327,
"cds_start": 486,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206974.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Ser162Ser",
"transcript": "ENST00000594424.5",
"protein_id": "ENSP00000471886.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 327,
"cds_start": 486,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594424.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "NM_013406.3",
"protein_id": "NP_037538.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 322,
"cds_start": 612,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013406.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000862638.1",
"protein_id": "ENSP00000532697.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 308,
"cds_start": 612,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862638.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000862637.1",
"protein_id": "ENSP00000532696.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 299,
"cds_start": 612,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862637.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser",
"transcript": "NM_001369692.1",
"protein_id": "NP_001356621.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 268,
"cds_start": 612,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369692.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Ser21Ser",
"transcript": "NM_001369693.1",
"protein_id": "NP_001356622.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 186,
"cds_start": 63,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369693.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.411T>C",
"hgvs_p": "p.Ser137Ser",
"transcript": "ENST00000596162.1",
"protein_id": "ENSP00000472348.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 181,
"cds_start": 411,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596162.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ser81Ser",
"transcript": "ENST00000597152.5",
"protein_id": "ENSP00000472094.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 137,
"cds_start": 243,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597152.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.18T>C",
"hgvs_p": "p.Ser6Ser",
"transcript": "ENST00000600864.5",
"protein_id": "ENSP00000472096.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 115,
"cds_start": 18,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600864.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"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": "ENST00000595100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000599481.1",
"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": "ENST00000599481.1"
}
],
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"dbsnp": "rs35129924",
"frequency_reference_population": 0.0007681757,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1240,
"gnomad_exomes_af": 0.000428213,
"gnomad_genomes_af": 0.00403088,
"gnomad_exomes_ac": 626,
"gnomad_genomes_ac": 614,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.486,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001930.4",
"gene_symbol": "DHPS",
"hgnc_id": 2869,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Ser204Ser"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000648033.1",
"gene_symbol": "ENSG00000285589",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*157T>C",
"hgvs_p": null
}
],
"clinvar_disease": "DHPS-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DHPS-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}