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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: 7-130018692-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130018692&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130018692,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494Gln",
"transcript": "NM_016478.5",
"protein_id": "NP_057562.3",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 502,
"cds_start": 1481,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494Gln",
"transcript": "ENST00000358303.9",
"protein_id": "ENSP00000351052.4",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 502,
"cds_start": 1481,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000481503.5",
"protein_id": "ENSP00000418533.1",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 459,
"cds_start": 1352,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1365G>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1434G>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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1295G>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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1491G>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1365G>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1434G>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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1295G>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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1491G>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508Gln",
"transcript": "ENST00000934846.1",
"protein_id": "ENSP00000604905.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 516,
"cds_start": 1523,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1496G>A",
"hgvs_p": "p.Arg499Gln",
"transcript": "ENST00000948672.1",
"protein_id": "ENSP00000618731.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 507,
"cds_start": 1496,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Gln",
"transcript": "ENST00000714105.1",
"protein_id": "ENSP00000519397.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 482,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714105.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Arg473Gln",
"transcript": "NM_001282190.2",
"protein_id": "NP_001269119.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 481,
"cds_start": 1418,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"transcript": "ENST00000869172.1",
"protein_id": "ENSP00000539231.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 474,
"cds_start": 1397,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1388G>A",
"hgvs_p": "p.Arg463Gln",
"transcript": "ENST00000934848.1",
"protein_id": "ENSP00000604907.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 471,
"cds_start": 1388,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "NM_001363701.1",
"protein_id": "NP_001350630.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 459,
"cds_start": 1352,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"transcript": "ENST00000948673.1",
"protein_id": "ENSP00000618732.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 457,
"cds_start": 1346,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "NM_001282191.1",
"protein_id": "NP_001269120.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 431,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282191.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000360708.9",
"protein_id": "ENSP00000353933.5",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 431,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360708.9"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"transcript": "ENST00000934847.1",
"protein_id": "ENSP00000604906.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 369,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1110,
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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{
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"feature": "ENST00000714100.1"
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{
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"protein_coding": false,
"strand": false,
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"gene_symbol": "ZC3HC1",
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"biotype": "nonsense_mediated_decay",
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{
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],
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"exon_count": 2,
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"biotype": "pseudogene",
"feature": "ENST00000480018.1"
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{
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],
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},
{
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],
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"feature": "ENST00000761333.1"
},
{
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"intron_variant"
],
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"gene_symbol": "UBE2H-DT",
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"hgvs_c": "n.880-7557C>T",
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"transcript": "XR_007060520.1",
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"biotype": "pseudogene",
"feature": "XR_007060520.1"
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],
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"dbsnp": "rs185837522",
"frequency_reference_population": 0.000024192288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000191777,
"gnomad_genomes_af": 0.0000723437,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26771390438079834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.1552,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.027,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016478.5",
"gene_symbol": "ZC3HC1",
"hgnc_id": 29913,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480018.1",
"gene_symbol": "UBE2H-DT",
"hgnc_id": 55615,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249-7557C>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
}