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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: 14-24162276-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24162276&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24162276,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001385400.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "NM_006084.5",
"protein_id": "NP_006075.3",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 393,
"cds_start": 132,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": "ENST00000396864.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006084.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000396864.8",
"protein_id": "ENSP00000380073.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 393,
"cds_start": 132,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": "NM_006084.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396864.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259529",
"gene_hgnc_id": null,
"hgvs_c": "n.*898T>C",
"hgvs_p": null,
"transcript": "ENST00000558468.2",
"protein_id": "ENSP00000457512.2",
"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": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259529",
"gene_hgnc_id": null,
"hgvs_c": "n.*898T>C",
"hgvs_p": null,
"transcript": "ENST00000558468.2",
"protein_id": "ENSP00000457512.2",
"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": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558468.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000698998.1",
"protein_id": "ENSP00000514074.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 465,
"cds_start": 132,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698998.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "NM_001385400.1",
"protein_id": "NP_001372329.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 464,
"cds_start": 132,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385400.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000698995.1",
"protein_id": "ENSP00000514071.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 464,
"cds_start": 132,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698995.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699015.1",
"protein_id": "ENSP00000514093.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 456,
"cds_start": 132,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699015.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000698997.1",
"protein_id": "ENSP00000514073.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 455,
"cds_start": 132,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698997.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699107.1",
"protein_id": "ENSP00000514133.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 455,
"cds_start": 132,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699107.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699063.1",
"protein_id": "ENSP00000514108.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 453,
"cds_start": 132,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699063.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000907734.1",
"protein_id": "ENSP00000577793.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 431,
"cds_start": 132,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907734.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "NM_001385401.1",
"protein_id": "NP_001372330.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 402,
"cds_start": 132,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385401.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000560275.6",
"protein_id": "ENSP00000454095.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 402,
"cds_start": 132,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560275.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000965754.1",
"protein_id": "ENSP00000635813.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 398,
"cds_start": 132,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965754.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699071.1",
"protein_id": "ENSP00000514112.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 393,
"cds_start": 132,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699071.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000907730.1",
"protein_id": "ENSP00000577789.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 393,
"cds_start": 132,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907730.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699067.1",
"protein_id": "ENSP00000514110.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 392,
"cds_start": 132,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699067.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699105.1",
"protein_id": "ENSP00000514132.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 392,
"cds_start": 132,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699105.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699069.1",
"protein_id": "ENSP00000514111.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 391,
"cds_start": 132,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699069.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000699081.1",
"protein_id": "ENSP00000514118.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 391,
"cds_start": 132,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699081.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His",
"transcript": "ENST00000907732.1",
"protein_id": "ENSP00000577791.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 391,
"cds_start": 132,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907732.1"
},
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{
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"canonical": false,
"protein_coding": false,
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{
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"feature": "ENST00000699103.1"
},
{
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"protein_coding": false,
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"feature": "ENST00000699106.1"
},
{
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"strand": true,
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],
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{
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"feature": "ENST00000699109.1"
},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "IRF9",
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"feature": "ENST00000699024.1"
},
{
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"upstream_gene_variant"
],
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"gene_symbol": "IRF9",
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"transcript": "ENST00000699025.1",
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"feature": "ENST00000699025.1"
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],
"gene_symbol": "IRF9",
"gene_hgnc_id": 6131,
"dbsnp": "rs1022984080",
"frequency_reference_population": 0.0000037174814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": 0.0000262954,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.259,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001385400.1",
"gene_symbol": "IRF9",
"hgnc_id": 6131,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.132T>C",
"hgvs_p": "p.His44His"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000558468.2",
"gene_symbol": "ENSG00000259529",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*898T>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}