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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: 12-56343472-CA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56343472&ref=CA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56343472,
"ref": "CA",
"alt": "AG",
"effect": "missense_variant",
"transcript": "NM_005419.4",
"consequences": [
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2472_2473delTGinsCT",
"hgvs_p": "p.Gly825Cys",
"transcript": "NM_005419.4",
"protein_id": "NP_005410.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 851,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": "ENST00000314128.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2472_2473delTGinsCT",
"hgvs_p": "p.Gly825Cys",
"transcript": "ENST00000314128.9",
"protein_id": "ENSP00000315768.4",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 851,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": "NM_005419.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.1402_1403delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000556539.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2460_2461delTGinsCT",
"hgvs_p": "p.Gly821Cys",
"transcript": "NM_198332.2",
"protein_id": "NP_938146.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 847,
"cds_start": 2460,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2460_2461delTGinsCT",
"hgvs_p": "p.Gly821Cys",
"transcript": "ENST00000557235.5",
"protein_id": "ENSP00000450751.1",
"transcript_support_level": 2,
"aa_start": 820,
"aa_end": null,
"aa_length": 847,
"cds_start": 2460,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2451_2452delTGinsCT",
"hgvs_p": "p.Gly818Cys",
"transcript": "NM_001385114.1",
"protein_id": "NP_001372043.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 844,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2439_2440delTGinsCT",
"hgvs_p": "p.Gly814Cys",
"transcript": "NM_001385110.1",
"protein_id": "NP_001372039.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 840,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2430_2431delTGinsCT",
"hgvs_p": "p.Gly811Cys",
"transcript": "NM_001385115.1",
"protein_id": "NP_001372044.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 837,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2373_2374delTGinsCT",
"hgvs_p": "p.Gly792Cys",
"transcript": "NM_001385111.1",
"protein_id": "NP_001372040.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 818,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2373_2374delTGinsCT",
"hgvs_p": "p.Gly792Cys",
"transcript": "ENST00000651915.1",
"protein_id": "ENSP00000498876.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 818,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2340_2341delTGinsCT",
"hgvs_p": "p.Gly781Cys",
"transcript": "ENST00000698186.1",
"protein_id": "ENSP00000513598.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 807,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2496_2497delTGinsCT",
"hgvs_p": "p.Gly833Cys",
"transcript": "XM_011538697.3",
"protein_id": "XP_011536999.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 859,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.2484_2485delTGinsCT",
"hgvs_p": "p.Gly829Cys",
"transcript": "XM_011538698.4",
"protein_id": "XP_011537000.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 855,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AG",
"aa_alt": "AC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.1527_1528delTGinsCT",
"hgvs_p": "p.Gly510Cys",
"transcript": "XM_047429469.1",
"protein_id": "XP_047285425.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 536,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.2355_2356delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000555488.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.3244_3245delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000556140.6",
"protein_id": null,
"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": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.*1906_*1907delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000650805.1",
"protein_id": "ENSP00000498710.1",
"transcript_support_level": null,
"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": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.3125_3126delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000651078.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.*2146_*2147delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000651301.1",
"protein_id": "ENSP00000498470.1",
"transcript_support_level": null,
"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": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.1207_1208delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000651339.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.2861_2862delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000651805.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.2912_2913delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000651934.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
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"protein_id": "ENSP00000499108.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
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"exon_count": 24,
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"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.*2227_*2228delTGinsCT",
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"transcript": "ENST00000652741.1",
"protein_id": "ENSP00000498704.1",
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"cdna_length": 4740,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.*2227_*2228delTGinsCT",
"hgvs_p": null,
"transcript": "ENST00000698180.1",
"protein_id": "ENSP00000513597.1",
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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": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"dbsnp": "rs1555169006",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.019,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005419.4",
"gene_symbol": "STAT2",
"hgnc_id": 11363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2472_2473delTGinsCT",
"hgvs_p": "p.Gly825Cys"
}
],
"clinvar_disease": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}