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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: 12-56356456-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56356456&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56356456,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005419.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_005419.4",
"protein_id": "NP_005410.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 851,
"cds_start": 116,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": "ENST00000314128.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "ENST00000314128.9",
"protein_id": "ENSP00000315768.4",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 851,
"cds_start": 116,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": "NM_005419.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_198332.2",
"protein_id": "NP_938146.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 847,
"cds_start": 116,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "ENST00000557235.5",
"protein_id": "ENSP00000450751.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 847,
"cds_start": 116,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_001385114.1",
"protein_id": "NP_001372043.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 844,
"cds_start": 116,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_001385110.1",
"protein_id": "NP_001372039.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 840,
"cds_start": 116,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_001385115.1",
"protein_id": "NP_001372044.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 837,
"cds_start": 116,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_001385111.1",
"protein_id": "NP_001372040.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 818,
"cds_start": 116,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "ENST00000651915.1",
"protein_id": "ENSP00000498876.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 818,
"cds_start": 116,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "NM_001385113.1",
"protein_id": "NP_001372042.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 807,
"cds_start": 116,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "ENST00000698186.1",
"protein_id": "ENSP00000513598.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 807,
"cds_start": 116,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "ENST00000698193.1",
"protein_id": "ENSP00000513600.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 806,
"cds_start": 116,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_011538697.3",
"protein_id": "XP_011536999.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 859,
"cds_start": 116,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_011538698.4",
"protein_id": "XP_011537000.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
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"cds_start": 116,
"cds_end": null,
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"cdna_start": 173,
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"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_011538699.4",
"protein_id": "XP_011537001.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 592,
"cds_start": 116,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_047429468.1",
"protein_id": "XP_047285424.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 584,
"cds_start": 116,
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"cdna_start": 173,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_047429470.1",
"protein_id": "XP_047285426.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 466,
"cds_start": 116,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_047429471.1",
"protein_id": "XP_047285427.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 464,
"cds_start": 116,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr",
"transcript": "XM_047429472.1",
"protein_id": "XP_047285428.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 464,
"cds_start": 116,
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"cdna_start": 173,
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"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.116T>C",
"hgvs_p": null,
"transcript": "ENST00000418572.7",
"protein_id": "ENSP00000387354.2",
"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,
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"cdna_length": 1675,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.116T>C",
"hgvs_p": null,
"transcript": "ENST00000555646.1",
"protein_id": "ENSP00000450985.1",
"transcript_support_level": 4,
"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": 603,
"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": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.231T>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.116T>C",
"hgvs_p": null,
"transcript": "ENST00000650805.1",
"protein_id": "ENSP00000498710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.173T>C",
"hgvs_p": null,
"transcript": "XR_245953.4",
"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": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.156+65T>C",
"hgvs_p": null,
"transcript": "ENST00000557417.5",
"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": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "n.-237T>C",
"hgvs_p": null,
"transcript": "ENST00000651967.1",
"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": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"dbsnp": "rs757152982",
"frequency_reference_population": 0.000004337099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410463,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9644620418548584,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.769,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6332,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.838,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005419.4",
"gene_symbol": "STAT2",
"hgnc_id": 11363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Ile39Thr"
}
],
"clinvar_disease": "Inborn genetic diseases,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}