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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: 14-102342022-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102342022&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102342022,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018335.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"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.2627A>T",
"hgvs_p": "p.Asn876Ile",
"transcript": "NM_018335.6",
"protein_id": "NP_060805.3",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 927,
"cds_start": 2627,
"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": "N",
"aa_alt": "I",
"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.2627A>T",
"hgvs_p": "p.Asn876Ile",
"transcript": "ENST00000442396.7",
"protein_id": "ENSP00000399863.2",
"transcript_support_level": 5,
"aa_start": 876,
"aa_end": null,
"aa_length": 927,
"cds_start": 2627,
"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.1874A>T",
"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": "N",
"aa_alt": "I",
"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.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "ENST00000892181.1",
"protein_id": "ENSP00000562240.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 896,
"cds_start": 2534,
"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": "N",
"aa_alt": "I",
"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.2504A>T",
"hgvs_p": "p.Asn835Ile",
"transcript": "ENST00000892182.1",
"protein_id": "ENSP00000562241.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 886,
"cds_start": 2504,
"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": "N",
"aa_alt": "I",
"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.2483A>T",
"hgvs_p": "p.Asn828Ile",
"transcript": "ENST00000946741.1",
"protein_id": "ENSP00000616800.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 879,
"cds_start": 2483,
"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": "N",
"aa_alt": "I",
"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.2477A>T",
"hgvs_p": "p.Asn826Ile",
"transcript": "NM_001385065.1",
"protein_id": "NP_001371994.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 877,
"cds_start": 2477,
"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": "N",
"aa_alt": "I",
"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.2477A>T",
"hgvs_p": "p.Asn826Ile",
"transcript": "ENST00000892179.1",
"protein_id": "ENSP00000562238.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 877,
"cds_start": 2477,
"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": "N",
"aa_alt": "I",
"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.2384A>T",
"hgvs_p": "p.Asn795Ile",
"transcript": "ENST00000920913.1",
"protein_id": "ENSP00000590972.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 846,
"cds_start": 2384,
"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": "N",
"aa_alt": "I",
"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.2279A>T",
"hgvs_p": "p.Asn760Ile",
"transcript": "NM_001267827.2",
"protein_id": "NP_001254756.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 811,
"cds_start": 2279,
"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": "N",
"aa_alt": "I",
"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.2279A>T",
"hgvs_p": "p.Asn760Ile",
"transcript": "NM_001267828.2",
"protein_id": "NP_001254757.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 811,
"cds_start": 2279,
"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": "N",
"aa_alt": "I",
"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.2279A>T",
"hgvs_p": "p.Asn760Ile",
"transcript": "ENST00000558850.5",
"protein_id": "ENSP00000453363.1",
"transcript_support_level": 2,
"aa_start": 760,
"aa_end": null,
"aa_length": 811,
"cds_start": 2279,
"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": "N",
"aa_alt": "I",
"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.2279A>T",
"hgvs_p": "p.Asn760Ile",
"transcript": "ENST00000559185.5",
"protein_id": "ENSP00000453109.1",
"transcript_support_level": 2,
"aa_start": 760,
"aa_end": null,
"aa_length": 811,
"cds_start": 2279,
"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": "N",
"aa_alt": "I",
"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.2264A>T",
"hgvs_p": "p.Asn755Ile",
"transcript": "NM_001385069.1",
"protein_id": "NP_001371998.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 806,
"cds_start": 2264,
"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": "N",
"aa_alt": "I",
"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.2252A>T",
"hgvs_p": "p.Asn751Ile",
"transcript": "ENST00000946740.1",
"protein_id": "ENSP00000616799.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 802,
"cds_start": 2252,
"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": "N",
"aa_alt": "I",
"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.2129A>T",
"hgvs_p": "p.Asn710Ile",
"transcript": "NM_001385070.1",
"protein_id": "NP_001371999.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 761,
"cds_start": 2129,
"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": "N",
"aa_alt": "I",
"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.2054A>T",
"hgvs_p": "p.Asn685Ile",
"transcript": "NM_001385071.1",
"protein_id": "NP_001372000.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 736,
"cds_start": 2054,
"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": "N",
"aa_alt": "I",
"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.1724A>T",
"hgvs_p": "p.Asn575Ile",
"transcript": "ENST00000892180.1",
"protein_id": "ENSP00000562239.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 626,
"cds_start": 1724,
"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": "N",
"aa_alt": "I",
"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.1574A>T",
"hgvs_p": "p.Asn525Ile",
"transcript": "ENST00000946742.1",
"protein_id": "ENSP00000616801.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 576,
"cds_start": 1574,
"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": "N",
"aa_alt": "I",
"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.1424A>T",
"hgvs_p": "p.Asn475Ile",
"transcript": "ENST00000559155.5",
"protein_id": "ENSP00000453415.1",
"transcript_support_level": 2,
"aa_start": 475,
"aa_end": null,
"aa_length": 526,
"cds_start": 1424,
"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": "N",
"aa_alt": "I",
"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.1271A>T",
"hgvs_p": "p.Asn424Ile",
"transcript": "ENST00000561251.5",
"protein_id": "ENSP00000453137.1",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1271,
"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": "N",
"aa_alt": "I",
"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.2729A>T",
"hgvs_p": "p.Asn910Ile",
"transcript": "XM_011536945.2",
"protein_id": "XP_011535247.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
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{
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],
"exon_rank": 9,
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"biotype": "nonsense_mediated_decay",
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{
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"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "CINP",
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{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ZNF839",
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"hgvs_c": "c.*489A>T",
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"transcript": "ENST00000560112.1",
"protein_id": "ENSP00000453744.1",
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"aa_length": 143,
"cds_start": null,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560112.1"
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],
"gene_symbol": "ZNF839",
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"dbsnp": "rs767751406",
"frequency_reference_population": 6.841527e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84153e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15303775668144226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.1926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.823,
"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": 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_018335.6",
"gene_symbol": "ZNF839",
"hgnc_id": 20345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2627A>T",
"hgvs_p": "p.Asn876Ile"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000559514.5",
"gene_symbol": "CINP",
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"effects": [
"non_coding_transcript_exon_variant"
],
"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
}