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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: 18-50984530-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50984530&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50984530,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018696.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "NM_018696.3",
"protein_id": "NP_061166.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": "ENST00000269466.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018696.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000269466.8",
"protein_id": "ENSP00000269466.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": "NM_018696.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269466.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000591429.1",
"protein_id": "ENSP00000464770.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 223,
"cds_start": 592,
"cds_end": null,
"cds_length": 672,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267699",
"gene_hgnc_id": null,
"hgvs_c": "n.157+9969G>C",
"hgvs_p": null,
"transcript": "ENST00000590722.2",
"protein_id": "ENSP00000465737.1",
"transcript_support_level": 2,
"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": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590722.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000858935.1",
"protein_id": "ENSP00000528994.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858935.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000858936.1",
"protein_id": "ENSP00000528995.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858936.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000858938.1",
"protein_id": "ENSP00000528997.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858938.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000858939.1",
"protein_id": "ENSP00000528998.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858939.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000961942.1",
"protein_id": "ENSP00000632001.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961942.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000961943.1",
"protein_id": "ENSP00000632002.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961943.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000961944.1",
"protein_id": "ENSP00000632003.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 363,
"cds_start": 592,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961944.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000917712.1",
"protein_id": "ENSP00000587771.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 225,
"cds_start": 178,
"cds_end": null,
"cds_length": 678,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917712.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Gln67His",
"transcript": "ENST00000588577.5",
"protein_id": "ENSP00000467389.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 88,
"cds_start": 201,
"cds_end": null,
"cds_length": 267,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588577.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000858940.1",
"protein_id": "ENSP00000528999.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 352,
"cds_start": 592,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858940.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.158-2089G>C",
"hgvs_p": null,
"transcript": "ENST00000858937.1",
"protein_id": "ENSP00000528996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858937.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.158-2089G>C",
"hgvs_p": null,
"transcript": "ENST00000858941.1",
"protein_id": "ENSP00000529000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267699",
"gene_hgnc_id": null,
"hgvs_c": "n.301G>C",
"hgvs_p": null,
"transcript": "ENST00000588256.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588256.1"
},
{
"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": "ENSG00000289868",
"gene_hgnc_id": null,
"hgvs_c": "n.279C>G",
"hgvs_p": null,
"transcript": "ENST00000797255.1",
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000797255.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289868",
"gene_hgnc_id": null,
"hgvs_c": "n.163-10019C>G",
"hgvs_p": null,
"transcript": "ENST00000797254.1",
"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": 373,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000797254.1"
},
{
"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": "ENSG00000289868",
"gene_hgnc_id": null,
"hgvs_c": "n.320-190C>G",
"hgvs_p": null,
"transcript": "ENST00000797256.1",
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000797256.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985152",
"gene_hgnc_id": null,
"hgvs_c": "n.10155-190C>G",
"hgvs_p": null,
"transcript": "XR_001753449.3",
"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": 11125,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001753449.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985152",
"gene_hgnc_id": null,
"hgvs_c": "n.10561-190C>G",
"hgvs_p": null,
"transcript": "XR_002958225.2",
"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": 11620,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002958225.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985152",
"gene_hgnc_id": null,
"hgvs_c": "n.178-190C>G",
"hgvs_p": null,
"transcript": "XR_007066370.1",
"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": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066370.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985152",
"gene_hgnc_id": null,
"hgvs_c": "n.10561-190C>G",
"hgvs_p": null,
"transcript": "XR_007066371.1",
"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": 10982,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066371.1"
}
],
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"dbsnp": "rs751258412",
"frequency_reference_population": 0.000002736562,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273656,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7892586588859558,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.589,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8491,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.526,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018696.3",
"gene_symbol": "ELAC1",
"hgnc_id": 14197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000590722.2",
"gene_symbol": "ENSG00000267699",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.157+9969G>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000797255.1",
"gene_symbol": "ENSG00000289868",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279C>G",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001753449.3",
"gene_symbol": "LOC107985152",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.10155-190C>G",
"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
}