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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: 11-72302339-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72302339&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72302339,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000538039.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Arg408Gly",
"transcript": "NM_030813.6",
"protein_id": "NP_110440.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 707,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": "ENST00000294053.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Arg408Gly",
"transcript": "ENST00000294053.9",
"protein_id": "ENSP00000294053.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 707,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": "NM_030813.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Arg378Gly",
"transcript": "NM_001258392.3",
"protein_id": "NP_001245321.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 677,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 9963,
"mane_select": "ENST00000538039.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Arg378Gly",
"transcript": "ENST00000538039.6",
"protein_id": "ENSP00000441518.1",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 677,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 9963,
"mane_select": "NM_001258392.3",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.149A>G",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"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": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Arg363Gly",
"transcript": "NM_001258394.3",
"protein_id": "NP_001245323.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 662,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"transcript": "NM_001258393.3",
"protein_id": "NP_001245322.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 648,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"transcript": "ENST00000340729.9",
"protein_id": "ENSP00000340385.5",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 648,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000642288.1",
"protein_id": "ENSP00000495167.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 381,
"cds_start": 619,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1135A>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "XM_005274320.2",
"protein_id": "XP_005274377.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 678,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "XM_047427655.1",
"protein_id": "XP_047283611.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 632,
"cds_start": 997,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 10070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Arg237Gly",
"transcript": "XM_047427656.1",
"protein_id": "XP_047283612.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 536,
"cds_start": 709,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 10262,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*557A>G",
"hgvs_p": null,
"transcript": "ENST00000535477.6",
"protein_id": "ENSP00000440423.2",
"transcript_support_level": 5,
"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": 2133,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*822A>G",
"hgvs_p": null,
"transcript": "ENST00000535990.6",
"protein_id": "ENSP00000443822.2",
"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,
"cdna_end": null,
"cdna_length": 2501,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.555A>G",
"hgvs_p": null,
"transcript": "ENST00000544382.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255843",
"gene_hgnc_id": null,
"hgvs_c": "n.201T>C",
"hgvs_p": null,
"transcript": "ENST00000546065.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*214A>G",
"hgvs_p": null,
"transcript": "ENST00000642187.1",
"protein_id": "ENSP00000494594.1",
"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": 1609,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.550A>G",
"hgvs_p": null,
"transcript": "ENST00000645105.1",
"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": 1522,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.476A>G",
"hgvs_p": null,
"transcript": "ENST00000645650.1",
"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": 507,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.310A>G",
"hgvs_p": null,
"transcript": "ENST00000646359.1",
"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": 1269,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.1203A>G",
"hgvs_p": null,
"transcript": "ENST00000695924.1",
"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": 2947,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.1203A>G",
"hgvs_p": null,
"transcript": "ENST00000695925.1",
"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": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LOC124902708",
"gene_hgnc_id": null,
"hgvs_c": "n.1921T>C",
"hgvs_p": null,
"transcript": "XR_007062766.1",
"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,
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"computational_score_selected": 0.7217278480529785,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.862,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.615,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 8,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000538039.6",
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Arg378Gly"
},
{
"score": 8,
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"pathogenic_score": 8,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000546065.1",
"gene_symbol": "ENSG00000255843",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.201T>C",
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},
{
"score": 8,
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"pathogenic_score": 8,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "XR_007062766.1",
"gene_symbol": "LOC124902708",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.1921T>C",
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}
],
"clinvar_disease": " 9, autosomal dominant, severe congenital, type VIIA, type VIIB,3-methylglutaconic aciduria,Inborn genetic diseases,Neutropenia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:4 O:1",
"phenotype_combined": "3-methylglutaconic aciduria, type VIIB|not provided|Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIA;3-methylglutaconic aciduria, type VIIB|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}