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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: 14-102326576-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102326576&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102326576,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000442396.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu",
"transcript": "NM_018335.6",
"protein_id": "NP_060805.3",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 927,
"cds_start": 880,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": "ENST00000442396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu",
"transcript": "ENST00000442396.7",
"protein_id": "ENSP00000399863.2",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 927,
"cds_start": 880,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": "NM_018335.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu",
"transcript": "NM_001385065.1",
"protein_id": "NP_001371994.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 877,
"cds_start": 880,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001267827.2",
"protein_id": "NP_001254756.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 811,
"cds_start": 532,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001267828.2",
"protein_id": "NP_001254757.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 811,
"cds_start": 532,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "ENST00000558850.5",
"protein_id": "ENSP00000453363.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 811,
"cds_start": 532,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "ENST00000559185.5",
"protein_id": "ENSP00000453109.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 811,
"cds_start": 532,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385069.1",
"protein_id": "NP_001371998.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 806,
"cds_start": 532,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385070.1",
"protein_id": "NP_001371999.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 761,
"cds_start": 532,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385071.1",
"protein_id": "NP_001372000.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 736,
"cds_start": 532,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu",
"transcript": "NM_001385072.1",
"protein_id": "NP_001372001.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 667,
"cds_start": 880,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu",
"transcript": "NM_001385073.1",
"protein_id": "NP_001372002.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 617,
"cds_start": 880,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385074.1",
"protein_id": "NP_001372003.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 551,
"cds_start": 532,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385075.1",
"protein_id": "NP_001372004.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 551,
"cds_start": 532,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"transcript": "NM_001385076.1",
"protein_id": "NP_001372005.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 551,
"cds_start": 532,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Gln328Glu",
"transcript": "XM_011536945.2",
"protein_id": "XP_011535247.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 961,
"cds_start": 982,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Gln328Glu",
"transcript": "XM_011536946.4",
"protein_id": "XP_011535248.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 911,
"cds_start": 982,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Gln224Glu",
"transcript": "XM_011536948.3",
"protein_id": "XP_011535250.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 857,
"cds_start": 670,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Gln206Glu",
"transcript": "XM_006720203.4",
"protein_id": "XP_006720266.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 839,
"cds_start": 616,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 5133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Gln328Glu",
"transcript": "XM_011536949.4",
"protein_id": "XP_011535251.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 701,
"cds_start": 982,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Gln328Glu",
"transcript": "XM_011536950.4",
"protein_id": "XP_011535252.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 651,
"cds_start": 982,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.688C>G",
"hgvs_p": null,
"transcript": "ENST00000559098.5",
"protein_id": "ENSP00000453515.1",
"transcript_support_level": 2,
"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": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.893C>G",
"hgvs_p": null,
"transcript": "NR_169565.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2760,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
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"hgvs_c": "n.893C>G",
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"transcript": "NR_169566.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2985,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.1128C>G",
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"transcript": "NR_169567.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3220,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.1014C>G",
"hgvs_p": null,
"transcript": "NR_169568.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.900C>G",
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"transcript": "NR_169569.1",
"protein_id": null,
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"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": 3077,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"dbsnp": "rs963361990",
"frequency_reference_population": 0.0000013683447,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136834,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04932764172554016,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.07,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000442396.7",
"gene_symbol": "ZNF839",
"hgnc_id": 20345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Gln294Glu"
}
],
"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
}