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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: 2-201079021-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201079021&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201079021,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002491.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "NM_002491.3",
"protein_id": "NP_002482.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237889.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002491.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000237889.9",
"protein_id": "ENSP00000237889.4",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002491.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237889.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "NM_001257102.2",
"protein_id": "NP_001244031.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257102.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000433898.5",
"protein_id": "ENSP00000410600.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433898.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000450023.6",
"protein_id": "ENSP00000401834.2",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450023.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000454214.1",
"protein_id": "ENSP00000407336.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454214.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000682325.1",
"protein_id": "ENSP00000507925.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682325.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000684175.1",
"protein_id": "ENSP00000508132.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684175.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000684420.1",
"protein_id": "ENSP00000508208.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684420.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000878930.1",
"protein_id": "ENSP00000548989.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878930.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000878931.1",
"protein_id": "ENSP00000548990.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878931.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000878932.1",
"protein_id": "ENSP00000548991.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878932.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928296.1",
"protein_id": "ENSP00000598355.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928296.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928297.1",
"protein_id": "ENSP00000598356.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928297.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928298.1",
"protein_id": "ENSP00000598357.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928298.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928299.1",
"protein_id": "ENSP00000598358.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928299.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928300.1",
"protein_id": "ENSP00000598359.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928300.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928301.1",
"protein_id": "ENSP00000598360.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928301.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928302.1",
"protein_id": "ENSP00000598361.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928302.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928303.1",
"protein_id": "ENSP00000598362.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928303.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000928304.1",
"protein_id": "ENSP00000598363.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928304.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
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"protein_id": "ENSP00000624042.1",
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"aa_start": 47,
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"aa_length": 98,
"cds_start": 139,
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"cds_length": 297,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953983.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000953984.1",
"protein_id": "ENSP00000624043.1",
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"aa_start": 47,
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"aa_length": 98,
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"cds_length": 297,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953984.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "XM_011511230.4",
"protein_id": "XP_011509532.1",
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"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511230.4"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "XM_047444488.1",
"protein_id": "XP_047300444.1",
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"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444488.1"
}
],
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"dbsnp": "rs772960455",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8860877752304077,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.47200000286102295,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9467,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.774,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.665156730176487,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002491.3",
"gene_symbol": "NDUFB3",
"hgnc_id": 7698,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}