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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: 1-161509955-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161509955&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FCGR2A",
"hgnc_id": 3616,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001136219.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 811016,
"alphamissense_prediction": null,
"alphamissense_score": 0.1036,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " in cystic fibrosis, severe, susceptibility to, susceptibility to chronic infection by,Lupus nephritis,Malaria,Pseudomonas aeruginosa,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00004473956869333051,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 511,
"cds_end": null,
"cds_length": 954,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136219.3",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271450.12",
"protein_coding": true,
"protein_id": "NP_001129691.1",
"strand": true,
"transcript": "NM_001136219.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 511,
"cds_end": null,
"cds_length": 954,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000271450.12",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136219.3",
"protein_coding": true,
"protein_id": "ENSP00000271450.6",
"strand": true,
"transcript": "ENST00000271450.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 316,
"aa_ref": "H",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 535,
"cds_end": null,
"cds_length": 951,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367972.8",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.His166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356949.4",
"strand": true,
"transcript": "ENST00000367972.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 336,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1494,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1011,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967690.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637749.1",
"strand": true,
"transcript": "ENST00000967690.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 316,
"aa_ref": "H",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 508,
"cds_end": null,
"cds_length": 951,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_021642.5",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.His166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_067674.2",
"strand": true,
"transcript": "NM_021642.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 276,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 511,
"cds_end": null,
"cds_length": 831,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001375296.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362225.1",
"strand": true,
"transcript": "NM_001375296.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 276,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 512,
"cds_end": null,
"cds_length": 831,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699277.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514258.1",
"strand": true,
"transcript": "ENST00000699277.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 275,
"aa_ref": "H",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 508,
"cds_end": null,
"cds_length": 828,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001375297.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.His166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362226.1",
"strand": true,
"transcript": "NM_001375297.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "H",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 253,
"cds_end": null,
"cds_length": 696,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000699278.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.242A>G",
"hgvs_p": "p.His81Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514259.1",
"strand": true,
"transcript": "ENST00000699278.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 178,
"aa_ref": "H",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 530,
"cds_end": null,
"cds_length": 537,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000699279.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.His28Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514260.1",
"strand": true,
"transcript": "ENST00000699279.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 369,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1110,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047449441.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305397.1",
"strand": true,
"transcript": "XM_047449441.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1107,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000663.3",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.His166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856152.1",
"strand": true,
"transcript": "XM_017000663.3",
"transcript_support_level": null
},
{
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"aa_length": 353,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1062,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000664.2",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856153.1",
"strand": true,
"transcript": "XM_017000664.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1062,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000665.2",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856154.1",
"strand": true,
"transcript": "XM_017000665.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 328,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": 511,
"cds_end": null,
"cds_length": 987,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000666.2",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856155.1",
"strand": true,
"transcript": "XM_017000666.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "H",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 511,
"cds_end": null,
"cds_length": 954,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011509290.3",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507592.1",
"strand": true,
"transcript": "XM_011509290.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 511,
"cds_end": null,
"cds_length": 786,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011509291.2",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507593.1",
"strand": true,
"transcript": "XM_011509291.2",
"transcript_support_level": null
},
{
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"aa_length": 230,
"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 211,
"cds_end": null,
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"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024454040.2",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.His28Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309808.1",
"strand": true,
"transcript": "XM_024454040.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467525.5",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "n.395A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476495.1",
"strand": true,
"transcript": "ENST00000467525.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000467654.1",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "n.519A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467654.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000471026.5",
"gene_hgnc_id": 3616,
"gene_symbol": "FCGR2A",
"hgvs_c": "n.193A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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}