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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: 14-102341403-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102341403&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102341403,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018335.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Ser670Gly",
"transcript": "NM_018335.6",
"protein_id": "NP_060805.3",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 927,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000442396.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018335.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Ser670Gly",
"transcript": "ENST00000442396.7",
"protein_id": "ENSP00000399863.2",
"transcript_support_level": 5,
"aa_start": 670,
"aa_end": null,
"aa_length": 927,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018335.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442396.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.1255A>G",
"hgvs_p": null,
"transcript": "ENST00000557803.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000557803.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ser639Gly",
"transcript": "ENST00000892181.1",
"protein_id": "ENSP00000562240.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 896,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892181.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Ser629Gly",
"transcript": "ENST00000892182.1",
"protein_id": "ENSP00000562241.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 886,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892182.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Ser622Gly",
"transcript": "ENST00000946741.1",
"protein_id": "ENSP00000616800.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 879,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946741.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Ser620Gly",
"transcript": "NM_001385065.1",
"protein_id": "NP_001371994.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 877,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385065.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Ser620Gly",
"transcript": "ENST00000892179.1",
"protein_id": "ENSP00000562238.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 877,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892179.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Ser589Gly",
"transcript": "ENST00000920913.1",
"protein_id": "ENSP00000590972.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 846,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920913.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Ser554Gly",
"transcript": "NM_001267827.2",
"protein_id": "NP_001254756.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 811,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267827.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Ser554Gly",
"transcript": "NM_001267828.2",
"protein_id": "NP_001254757.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 811,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267828.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Ser554Gly",
"transcript": "ENST00000558850.5",
"protein_id": "ENSP00000453363.1",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 811,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558850.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Ser554Gly",
"transcript": "ENST00000559185.5",
"protein_id": "ENSP00000453109.1",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 811,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559185.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Ser549Gly",
"transcript": "NM_001385069.1",
"protein_id": "NP_001371998.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 806,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385069.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ser545Gly",
"transcript": "ENST00000946740.1",
"protein_id": "ENSP00000616799.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 802,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946740.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1510A>G",
"hgvs_p": "p.Ser504Gly",
"transcript": "NM_001385070.1",
"protein_id": "NP_001371999.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 761,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385070.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1435A>G",
"hgvs_p": "p.Ser479Gly",
"transcript": "NM_001385071.1",
"protein_id": "NP_001372000.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 736,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385071.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Ser369Gly",
"transcript": "ENST00000892180.1",
"protein_id": "ENSP00000562239.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 626,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892180.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Ser319Gly",
"transcript": "ENST00000946742.1",
"protein_id": "ENSP00000616801.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 576,
"cds_start": 955,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946742.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Ser269Gly",
"transcript": "ENST00000559155.5",
"protein_id": "ENSP00000453415.1",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 526,
"cds_start": 805,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559155.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ser218Gly",
"transcript": "ENST00000561251.5",
"protein_id": "ENSP00000453137.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 475,
"cds_start": 652,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561251.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Ser704Gly",
"transcript": "XM_011536945.2",
"protein_id": "XP_011535247.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 961,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.2113A>G",
"hgvs_p": null,
"transcript": "NR_169569.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"hgvs_c": "n.*419A>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": 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": "ENST00000559098.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "CINP",
"gene_hgnc_id": 23789,
"hgvs_c": "n.*3265T>C",
"hgvs_p": null,
"transcript": "ENST00000559514.5",
"protein_id": "ENSP00000453839.1",
"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": "ENST00000559514.5"
}
],
"gene_symbol": "ZNF839",
"gene_hgnc_id": 20345,
"dbsnp": "rs528027695",
"frequency_reference_population": 0.000048893482,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000520147,
"gnomad_genomes_af": 0.0000197138,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024269014596939087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0712,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.044,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018335.6",
"gene_symbol": "ZNF839",
"hgnc_id": 20345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Ser670Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000559514.5",
"gene_symbol": "CINP",
"hgnc_id": 23789,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*3265T>C",
"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
}