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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: 1-200650639-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200650639&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200650639,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000331314.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001031725.6",
"protein_id": "NP_001026895.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 619,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "ENST00000331314.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "ENST00000331314.11",
"protein_id": "ENSP00000330460.6",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 619,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "NM_001031725.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001349799.3",
"protein_id": "NP_001336728.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 619,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001349800.3",
"protein_id": "NP_001336729.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 619,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "ENST00000447706.6",
"protein_id": "ENSP00000394367.2",
"transcript_support_level": 2,
"aa_start": 367,
"aa_end": null,
"aa_length": 580,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001349801.3",
"protein_id": "NP_001336730.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 576,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001320181.2",
"protein_id": "NP_001307110.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 567,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "NM_001349802.3",
"protein_id": "NP_001336731.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 557,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.29T>A",
"hgvs_p": "p.Val10Glu",
"transcript": "ENST00000433235.1",
"protein_id": "ENSP00000409954.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 223,
"cds_start": 29,
"cds_end": null,
"cds_length": 674,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.14T>A",
"hgvs_p": "p.Val5Glu",
"transcript": "ENST00000413408.5",
"protein_id": "ENSP00000394304.1",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 205,
"cds_start": 14,
"cds_end": null,
"cds_length": 618,
"cdna_start": 14,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.29T>A",
"hgvs_p": "p.Val10Glu",
"transcript": "ENST00000453944.1",
"protein_id": "ENSP00000398152.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 74,
"cds_start": 29,
"cds_end": null,
"cds_length": 225,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "XM_017002432.3",
"protein_id": "XP_016857921.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 619,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "XM_047431458.1",
"protein_id": "XP_047287414.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 576,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "XM_047431459.1",
"protein_id": "XP_047287415.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 576,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Val367Glu",
"transcript": "XM_047431461.1",
"protein_id": "XP_047287417.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 557,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.*22T>A",
"hgvs_p": null,
"transcript": "XM_047431480.1",
"protein_id": "XP_047287436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1063-1413T>A",
"hgvs_p": null,
"transcript": "NM_001349803.3",
"protein_id": "NP_001336732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.973-1413T>A",
"hgvs_p": null,
"transcript": "NM_001320182.1",
"protein_id": "NP_001307111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1063-6122T>A",
"hgvs_p": null,
"transcript": "NM_001349804.2",
"protein_id": "NP_001336733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.46-1413T>A",
"hgvs_p": null,
"transcript": "ENST00000429498.5",
"protein_id": "ENSP00000408662.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1063-1413T>A",
"hgvs_p": null,
"transcript": "XM_047431466.1",
"protein_id": "XP_047287422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1063-1413T>A",
"hgvs_p": null,
"transcript": "XM_047431468.1",
"protein_id": "XP_047287424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1063-1413T>A",
"hgvs_p": null,
"transcript": "XM_047431471.1",
"protein_id": "XP_047287427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000331314.11",
"gene_symbol": "DDX59",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}