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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: 7-130023539-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130023539&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130023539,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016478.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"transcript": "NM_016478.5",
"protein_id": "NP_057562.3",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358303.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016478.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"transcript": "ENST00000358303.9",
"protein_id": "ENSP00000351052.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016478.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358303.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"transcript": "ENST00000481503.5",
"protein_id": "ENSP00000418533.1",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 459,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1089G>A",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1158G>A",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470651.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1019G>A",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1215G>A",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"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": "ENST00000648450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1089G>A",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1158G>A",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470651.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1019G>A",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1215G>A",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"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": "ENST00000648450.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000934846.1",
"protein_id": "ENSP00000604905.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 516,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934846.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"transcript": "ENST00000948672.1",
"protein_id": "ENSP00000618731.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 507,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948672.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381Gln",
"transcript": "NM_001282190.2",
"protein_id": "NP_001269119.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 481,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282190.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374Gln",
"transcript": "ENST00000869172.1",
"protein_id": "ENSP00000539231.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 474,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869172.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371Gln",
"transcript": "ENST00000934848.1",
"protein_id": "ENSP00000604907.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 471,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934848.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"transcript": "NM_001363701.1",
"protein_id": "NP_001350630.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 459,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363701.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357Gln",
"transcript": "ENST00000948673.1",
"protein_id": "ENSP00000618732.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 457,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948673.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Arg269Gln",
"transcript": "ENST00000934847.1",
"protein_id": "ENSP00000604906.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 369,
"cds_start": 806,
"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": "ENST00000934847.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"transcript": "XM_011516288.4",
"protein_id": "XP_011514590.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 435,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516288.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292Gln",
"transcript": "XM_047420453.1",
"protein_id": "XP_047276409.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 392,
"cds_start": 875,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420453.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "XM_005250403.4",
"protein_id": "XP_005250460.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 378,
"cds_start": 833,
"cds_end": null,
"cds_length": 1137,
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{
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{
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{
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{
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{
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{
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{
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],
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{
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"gene_symbol": "ZC3HC1",
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"biotype": "retained_intron",
"feature": "ENST00000477578.5"
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],
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"dbsnp": "rs879868826",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000342027,
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"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17624390125274658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": 0.4001,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.587,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016478.5",
"gene_symbol": "ZC3HC1",
"hgnc_id": 29913,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480018.1",
"gene_symbol": "UBE2H-DT",
"hgnc_id": 55615,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249-2710C>T",
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}
],
"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
}