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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: 15-25339159-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25339159&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 25339159,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_130839.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs",
"transcript": "NM_130839.5",
"protein_id": "NP_570854.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 872,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "ENST00000648336.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs",
"transcript": "ENST00000648336.2",
"protein_id": "ENSP00000497572.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 872,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "NM_130839.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "ENST00000566215.5",
"protein_id": "ENSP00000457771.1",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3122,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 54,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.5766+60276delC",
"hgvs_p": null,
"transcript": "ENST00000424333.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.488+60276delC",
"hgvs_p": null,
"transcript": "ENST00000554726.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2605delG",
"hgvs_p": "p.Ala869fs",
"transcript": "NM_000462.5",
"protein_id": "NP_000453.2",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 875,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2605delG",
"hgvs_p": "p.Ala869fs",
"transcript": "ENST00000650110.1",
"protein_id": "ENSP00000497594.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 875,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs",
"transcript": "NM_001354505.1",
"protein_id": "NP_001341434.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 872,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs",
"transcript": "NM_001354538.2",
"protein_id": "NP_001341467.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 872,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 8764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs",
"transcript": "ENST00000637886.1",
"protein_id": "ENSP00000490258.1",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 872,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 8725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354506.2",
"protein_id": "NP_001341435.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 8864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354507.2",
"protein_id": "NP_001341436.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
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"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 8960,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354508.2",
"protein_id": "NP_001341437.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
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"cdna_start": 3492,
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"cdna_length": 8924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354509.2",
"protein_id": "NP_001341438.1",
"transcript_support_level": null,
"aa_start": 846,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354511.2",
"protein_id": "NP_001341440.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
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"cdna_start": 3442,
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"cdna_length": 8874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354512.2",
"protein_id": "NP_001341441.1",
"transcript_support_level": null,
"aa_start": 846,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354513.2",
"protein_id": "NP_001341442.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
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"cds_start": 2536,
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"cdna_start": 3462,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354523.2",
"protein_id": "NP_001341452.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
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"cdna_start": 3409,
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"cdna_length": 8841,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354526.1",
"protein_id": "NP_001341455.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354539.2",
"protein_id": "NP_001341468.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
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"cds_start": 2536,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354540.2",
"protein_id": "NP_001341469.1",
"transcript_support_level": null,
"aa_start": 846,
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"cds_start": 2536,
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"cdna_start": 3722,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
"transcript": "NM_001354541.2",
"protein_id": "NP_001341470.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 852,
"cds_start": 2536,
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"cdna_start": 3557,
"cdna_end": null,
"cdna_length": 8989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2536delG",
"hgvs_p": "p.Ala846fs",
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"gene_hgnc_id": 37462,
"hgvs_c": "n.18393-52436delC",
"hgvs_p": null,
"transcript": "NR_146177.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"dbsnp": "rs1064797196",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_130839.5",
"gene_symbol": "UBE3A",
"hgnc_id": 12496,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2596delG",
"hgvs_p": "p.Ala866fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000424333.6",
"gene_symbol": "SNHG14",
"hgnc_id": 37462,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5766+60276delC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}