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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: 6-35228696-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35228696&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35228696,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152753.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "NM_152753.4",
"protein_id": "NP_689966.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 993,
"cds_start": 291,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274938.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152753.4"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000274938.8",
"protein_id": "ENSP00000274938.7",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 993,
"cds_start": 291,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152753.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274938.8"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000889524.1",
"protein_id": "ENSP00000559583.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1009,
"cds_start": 291,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889524.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000940915.1",
"protein_id": "ENSP00000610974.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1008,
"cds_start": 291,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940915.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "NM_001303136.2",
"protein_id": "NP_001290065.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 992,
"cds_start": 291,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303136.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000926754.1",
"protein_id": "ENSP00000596813.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 992,
"cds_start": 291,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926754.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000889525.1",
"protein_id": "ENSP00000559584.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 979,
"cds_start": 291,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889525.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000889526.1",
"protein_id": "ENSP00000559585.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 955,
"cds_start": 291,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889526.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000940916.1",
"protein_id": "ENSP00000610975.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 954,
"cds_start": 291,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940916.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000889527.1",
"protein_id": "ENSP00000559586.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 951,
"cds_start": 291,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889527.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000889528.1",
"protein_id": "ENSP00000559587.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 939,
"cds_start": 291,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889528.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000926755.1",
"protein_id": "ENSP00000596814.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 937,
"cds_start": 291,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926755.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000940913.1",
"protein_id": "ENSP00000610972.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 912,
"cds_start": 291,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940913.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_005248943.2",
"protein_id": "XP_005249000.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1009,
"cds_start": 291,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248943.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.267C>G",
"hgvs_p": "p.Cys89Trp",
"transcript": "XM_047418382.1",
"protein_id": "XP_047274338.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 985,
"cds_start": 267,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418382.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_005248947.2",
"protein_id": "XP_005249004.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 955,
"cds_start": 291,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248947.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047418383.1",
"protein_id": "XP_047274339.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 939,
"cds_start": 291,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418383.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"hgvs_c": "c.86-3029C>G",
"hgvs_p": null,
"transcript": "ENST00000940914.1",
"protein_id": "ENSP00000610973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": null,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3-AS1",
"gene_hgnc_id": 56671,
"hgvs_c": "n.3254G>C",
"hgvs_p": null,
"transcript": "XR_001744099.2",
"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": "XR_001744099.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3-AS1",
"gene_hgnc_id": 56671,
"hgvs_c": "n.3105G>C",
"hgvs_p": null,
"transcript": "XR_001744102.2",
"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": "XR_001744102.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE3-AS1",
"gene_hgnc_id": 56671,
"hgvs_c": "n.3452G>C",
"hgvs_p": null,
"transcript": "XR_007059559.1",
"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": "XR_007059559.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305352",
"gene_hgnc_id": null,
"hgvs_c": "n.261+15652G>C",
"hgvs_p": null,
"transcript": "ENST00000810546.1",
"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": "ENST00000810546.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305352",
"gene_hgnc_id": null,
"hgvs_c": "n.456+15652G>C",
"hgvs_p": null,
"transcript": "ENST00000810547.1",
"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": "ENST00000810547.1"
}
],
"gene_symbol": "SCUBE3",
"gene_hgnc_id": 13655,
"dbsnp": "rs1783419625",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9914677143096924,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.911,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.326,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152753.4",
"gene_symbol": "SCUBE3",
"hgnc_id": 13655,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_001744099.2",
"gene_symbol": "SCUBE3-AS1",
"hgnc_id": 56671,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3254G>C",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000810546.1",
"gene_symbol": "ENSG00000305352",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+15652G>C",
"hgvs_p": null
}
],
"clinvar_disease": " and skeletal anomalies with or without cardiac anomalies 2, facial dysmorphism,Abnormal facial shape,Abnormality of the dentition,Abnormality of the skeletal system,Short stature",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Abnormality of the dentition;Abnormal facial shape;Short stature;Abnormality of the skeletal system|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}