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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: 1-19656947-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19656947&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19656947,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000375136.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_005380.8",
"protein_id": "NP_005371.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": "ENST00000375136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000375136.8",
"protein_id": "ENSP00000364278.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": "NM_005380.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.466G>T",
"hgvs_p": "p.Ala156Ser",
"transcript": "ENST00000615215.4",
"protein_id": "ENSP00000478223.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 215,
"cds_start": 466,
"cds_end": null,
"cds_length": 648,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000618761.4",
"protein_id": "ENSP00000483061.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Ala157Ser",
"transcript": "NM_182744.4",
"protein_id": "NP_877421.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 216,
"cds_start": 469,
"cds_end": null,
"cds_length": 651,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Ala157Ser",
"transcript": "ENST00000289749.6",
"protein_id": "ENSP00000289749.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 216,
"cds_start": 469,
"cds_end": null,
"cds_length": 651,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.466G>T",
"hgvs_p": "p.Ala156Ser",
"transcript": "NM_001204086.3",
"protein_id": "NP_001191015.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 215,
"cds_start": 466,
"cds_end": null,
"cds_length": 648,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Ala136Ser",
"transcript": "NM_001204088.2",
"protein_id": "NP_001191017.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 195,
"cds_start": 406,
"cds_end": null,
"cds_length": 588,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001204084.3",
"protein_id": "NP_001191013.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001204085.2",
"protein_id": "NP_001191014.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001204089.2",
"protein_id": "NP_001191018.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001278164.2",
"protein_id": "NP_001265093.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001278165.2",
"protein_id": "NP_001265094.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "NM_001278166.2",
"protein_id": "NP_001265095.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000548815.2",
"protein_id": "ENSP00000449007.2",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000602662.1",
"protein_id": "ENSP00000473411.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000621723.4",
"protein_id": "ENSP00000478885.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000622566.4",
"protein_id": "ENSP00000480391.1",
"transcript_support_level": 4,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Ala121Ser",
"transcript": "ENST00000427894.5",
"protein_id": "ENSP00000394079.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 162,
"cds_start": 361,
"cds_end": null,
"cds_length": 490,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Ala122Ser",
"transcript": "ENST00000451758.5",
"protein_id": "ENSP00000390607.1",
"transcript_support_level": 4,
"aa_start": 122,
"aa_end": null,
"aa_length": 127,
"cds_start": 364,
"cds_end": null,
"cds_length": 386,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.*14G>T",
"hgvs_p": null,
"transcript": "ENST00000425400.5",
"protein_id": "ENSP00000400250.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*816G>T",
"hgvs_p": null,
"transcript": "ENST00000602384.5",
"protein_id": "ENSP00000473550.1",
"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": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.*13G>T",
"hgvs_p": null,
"transcript": "ENST00000428975.5",
"protein_id": "ENSP00000412419.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
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{
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{
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.1289464831352234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.594,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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{
"score": 0,
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"gene_symbol": "MICOS10-NBL1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.406G>T",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}