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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: 2-159951564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159951564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLA2R1",
"hgnc_id": 9042,
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_007366.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 680312,
"alphamissense_prediction": null,
"alphamissense_score": 0.0605,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "Atypical hemolytic-uremic syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00001510430683993036,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14376,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_007366.5",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283243.13",
"protein_coding": true,
"protein_id": "NP_031392.3",
"strand": false,
"transcript": "NM_007366.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14376,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000283243.13",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007366.5",
"protein_coding": true,
"protein_id": "ENSP00000283243.7",
"strand": false,
"transcript": "ENST00000283243.13",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 3523,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000392771.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376524.1",
"strand": false,
"transcript": "ENST00000392771.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14370,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4386,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001195641.2",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182570.1",
"strand": false,
"transcript": "NM_001195641.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8525,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4386,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000890090.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560149.1",
"strand": false,
"transcript": "ENST00000890090.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "G",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3280,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000890093.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3280G>A",
"hgvs_p": "p.Gly1094Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560152.1",
"strand": false,
"transcript": "ENST00000890093.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 3403,
"cds_end": null,
"cds_length": 4350,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000890094.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560153.1",
"strand": false,
"transcript": "ENST00000890094.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "G",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 3480,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000890091.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Gly1090Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560150.1",
"strand": false,
"transcript": "ENST00000890091.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "G",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5298,
"cdna_start": 3190,
"cds_end": null,
"cds_length": 4062,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000890092.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Gly996Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560151.1",
"strand": false,
"transcript": "ENST00000890092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5175,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001007267.3",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007268.1",
"strand": false,
"transcript": "NM_001007267.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 3189,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966629.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636688.1",
"strand": false,
"transcript": "ENST00000966629.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8905,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_005246392.5",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246449.1",
"strand": false,
"transcript": "XM_005246392.5",
"transcript_support_level": null
},
{
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"aa_length": 1463,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8551,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011510820.4",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509122.1",
"strand": false,
"transcript": "XM_011510820.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017003598.2",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859087.1",
"strand": false,
"transcript": "XM_017003598.2",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5847,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047443729.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299685.1",
"strand": false,
"transcript": "XM_047443729.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "G",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4386,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047443730.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299686.1",
"strand": false,
"transcript": "XM_047443730.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017003599.2",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "c.3316G>A",
"hgvs_p": "p.Gly1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859088.1",
"strand": false,
"transcript": "XM_017003599.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9613,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XR_001738671.3",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "n.3528G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001738671.3",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9095,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XR_001738672.3",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "n.3528G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001738672.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XR_007071491.1",
"gene_hgnc_id": 9042,
"gene_symbol": "PLA2R1",
"hgvs_c": "n.3528G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007071491.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 16373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XR_007071492.1",
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