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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: 14-31561485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31561485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31561485,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025152.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "NM_025152.3",
"protein_id": "NP_079428.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 319,
"cds_start": 46,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281081.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025152.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000281081.12",
"protein_id": "ENSP00000281081.7",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 319,
"cds_start": 46,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025152.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281081.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858673.1",
"protein_id": "ENSP00000528732.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 359,
"cds_start": 46,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858673.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858677.1",
"protein_id": "ENSP00000528736.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 317,
"cds_start": 46,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858677.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858674.1",
"protein_id": "ENSP00000528733.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 314,
"cds_start": 46,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858674.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000955294.1",
"protein_id": "ENSP00000625353.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 314,
"cds_start": 46,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955294.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858672.1",
"protein_id": "ENSP00000528731.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 298,
"cds_start": 46,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858672.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000955293.1",
"protein_id": "ENSP00000625352.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 294,
"cds_start": 46,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955293.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858676.1",
"protein_id": "ENSP00000528735.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 274,
"cds_start": 46,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858676.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000858675.1",
"protein_id": "ENSP00000528734.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 259,
"cds_start": 46,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858675.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000937194.1",
"protein_id": "ENSP00000607253.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 251,
"cds_start": 46,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937194.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "ENST00000550649.5",
"protein_id": "ENSP00000447618.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 166,
"cds_start": 46,
"cds_end": null,
"cds_length": 502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550649.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_017021664.2",
"protein_id": "XP_016877153.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 197,
"cds_start": 46,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021664.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_017021665.3",
"protein_id": "XP_016877154.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 185,
"cds_start": 46,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021665.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_011537183.3",
"protein_id": "XP_011535485.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 181,
"cds_start": 46,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537183.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_017021666.2",
"protein_id": "XP_016877155.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 181,
"cds_start": 46,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021666.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_047431788.1",
"protein_id": "XP_047287744.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 173,
"cds_start": 46,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431788.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"transcript": "XM_047431789.1",
"protein_id": "XP_047287745.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 165,
"cds_start": 46,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431789.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.34-583C>T",
"hgvs_p": null,
"transcript": "ENST00000550005.1",
"protein_id": "ENSP00000446511.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550005.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.46C>T",
"hgvs_p": null,
"transcript": "ENST00000547839.5",
"protein_id": "ENSP00000449918.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547839.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.50C>T",
"hgvs_p": null,
"transcript": "ENST00000548937.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548937.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.10C>T",
"hgvs_p": null,
"transcript": "ENST00000549838.5",
"protein_id": "ENSP00000447658.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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],
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},
{
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},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "NUBPL",
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{
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],
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},
{
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],
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"gene_symbol": "NUBPL",
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},
{
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],
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"gene_symbol": "NUBPL-DT",
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"transcript": "ENST00000716738.2",
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"feature": "ENST00000716738.2"
},
{
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],
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"gene_symbol": "NUBPL-DT",
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"hgvs_c": "n.-154G>A",
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"transcript": "XR_943720.2",
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"biotype": "pseudogene",
"feature": "XR_943720.2"
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],
"gene_symbol": "NUBPL",
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"dbsnp": "rs886050447",
"frequency_reference_population": 0.0000014232951,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.98086e-7,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0977286696434021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.1386,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.184,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025152.3",
"gene_symbol": "NUBPL",
"hgnc_id": 20278,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548096.1",
"gene_symbol": "NUBPL-DT",
"hgnc_id": 55483,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-151G>A",
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}
],
"clinvar_disease": " nuclear type 1,Mitochondrial complex I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}