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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: 7-128947297-CACTCTGCAGCCGCCCACTCTGCGGCCGCCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128947297&ref=CACTCTGCAGCCGCCCACTCTGCGGCCGCCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128947297,
"ref": "CACTCTGCAGCCGCCCACTCTGCGGCCGCCT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001098629.3",
"consequences": [
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "NM_001098629.3",
"protein_id": "NP_001092099.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "ENST00000357234.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "ENST00000357234.10",
"protein_id": "ENSP00000349770.5",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "NM_001098629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "ENST00000402030.6",
"protein_id": "ENSP00000385352.2",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 498,
"cds_start": 524,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.481+264_481+293delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": null,
"transcript": "ENST00000477535.5",
"protein_id": "ENSP00000419950.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "NM_001347928.2",
"protein_id": "NP_001334857.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "NM_001364314.2",
"protein_id": "NP_001351243.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "ENST00000489702.6",
"protein_id": "ENSP00000418037.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "NM_001098627.4",
"protein_id": "NP_001092097.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 498,
"cds_start": 524,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "NM_001098630.3",
"protein_id": "NP_001092100.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 498,
"cds_start": 524,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "NM_032643.5",
"protein_id": "NP_116032.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 498,
"cds_start": 524,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "ENST00000473745.5",
"protein_id": "ENSP00000419149.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 498,
"cds_start": 524,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RPPTLQPPTLQ",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "XM_006715974.3",
"protein_id": "XP_006716037.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 514,
"cds_start": 572,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "XM_011516158.4",
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"cds_start": 572,
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"cdna_start": 789,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "XM_011516159.4",
"protein_id": "XP_011514461.1",
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"aa_start": 191,
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"cds_start": 572,
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"cdna_start": 2849,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "XM_011516160.2",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del",
"transcript": "XM_047420336.1",
"protein_id": "XP_047276292.1",
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"aa_end": null,
"aa_length": 514,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "XM_047420338.1",
"protein_id": "XP_047276294.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.524_553delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg175_Leu184del",
"transcript": "XM_047420339.1",
"protein_id": "XP_047276295.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.825_854delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": null,
"transcript": "ENST00000461416.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.*52_*81delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": null,
"transcript": "ENST00000465603.5",
"protein_id": "ENSP00000418534.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.808_837delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": null,
"transcript": "ENST00000700148.1",
"protein_id": null,
"transcript_support_level": null,
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},
{
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},
{
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},
{
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},
{
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"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
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},
{
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"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
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},
{
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"downstream_gene_variant"
],
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},
{
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],
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}
],
"gene_symbol": "IRF5",
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"dbsnp": "rs60344245",
"frequency_reference_population": 0.49545497,
"hom_count_reference_population": 18851,
"allele_count_reference_population": 75108,
"gnomad_exomes_af": 0.496188,
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"gnomad_genomes_ac": 75108,
"gnomad_exomes_homalt": 180811,
"gnomad_genomes_homalt": 18851,
"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": 0.736,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001098629.3",
"gene_symbol": "IRF5",
"hgnc_id": 6120,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC",
"hgvs_p": "p.Arg191_Leu200del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}