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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: 6-137198270-CATTTCTGGAGTGATCACTCTCAGAACA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137198270&ref=CATTTCTGGAGTGATCACTCTCAGAACA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137198270,
"ref": "CATTTCTGGAGTGATCACTCTCAGAACA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000367739.9",
"consequences": [
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1204_1230delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys402_Asn410del",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 489,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1204_1230delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys402_Asn410del",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 489,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 479,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 392,
"aa_end": null,
"aa_length": 479,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 479,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 479,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1147_1173delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys383_Asn391del",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 470,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1147_1173delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys383_Asn391del",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 470,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CSESDHSRN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1102_1128delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys368_Asn376del",
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": 368,
"aa_end": null,
"aa_length": 455,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1081_1107delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys361_Asn369del",
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 448,
"cds_start": 1081,
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"cdna_start": 1670,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.1081_1107delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys361_Asn369del",
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
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"cds_start": 1081,
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},
{
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"consequences": [
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],
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.1081_1107delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys361_Asn369del",
"transcript": "ENST00000645753.1",
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},
{
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],
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.1081_1107delTGTTCTGAGAGTGATCACTCCAGAAAT",
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"transcript": "ENST00000647124.1",
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},
{
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],
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1081_1107delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys361_Asn369del",
"transcript": "ENST00000696693.1",
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},
{
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],
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.1150_1176delTGTTCTGAGAGTGATCACTCCAGAAAT",
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"transcript": "ENST00000696697.1",
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},
{
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],
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1042_1068delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys348_Asn356del",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
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},
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],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.1174_1200delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys392_Asn400del",
"transcript": "XM_047418726.1",
"protein_id": "XP_047274682.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*1231_*1257delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": null,
"transcript": "ENST00000643119.1",
"protein_id": "ENSP00000495934.1",
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"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": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
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"hgvs_c": "n.*1103_*1129delTGTTCTGAGAGTGATCACTCCAGAAAT",
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"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
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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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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.*302_*328delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": null,
"transcript": "ENST00000696694.1",
"protein_id": "ENSP00000512815.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
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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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*1231_*1257delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": null,
"transcript": "ENST00000643119.1",
"protein_id": "ENSP00000495934.1",
"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": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*1103_*1129delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": null,
"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
"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": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"dbsnp": "rs137854905",
"frequency_reference_population": 0.000008208855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000820886,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0.335,
"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": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367739.9",
"gene_symbol": "IFNGR1",
"hgnc_id": 5439,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1204_1230delTGTTCTGAGAGTGATCACTCCAGAAAT",
"hgvs_p": "p.Cys402_Asn410del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}