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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: 7-157409963-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157409963&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157409963,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_058246.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "NM_058246.4",
"protein_id": "NP_490647.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262177.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058246.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000262177.9",
"protein_id": "ENSP00000262177.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058246.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262177.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.860G>A",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"transcript_support_level": 1,
"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": "ENST00000459889.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317Gln",
"transcript": "ENST00000867739.1",
"protein_id": "ENSP00000537798.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 356,
"cds_start": 950,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867739.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956621.1",
"protein_id": "ENSP00000626680.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 338,
"cds_start": 860,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956621.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000634080.1",
"protein_id": "ENSP00000488740.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 334,
"cds_start": 860,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634080.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000867735.1",
"protein_id": "ENSP00000537794.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867735.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000867741.1",
"protein_id": "ENSP00000537800.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867741.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000867742.1",
"protein_id": "ENSP00000537801.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867742.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000911733.1",
"protein_id": "ENSP00000581792.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911733.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000911737.1",
"protein_id": "ENSP00000581796.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911737.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000911739.1",
"protein_id": "ENSP00000581798.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911739.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956617.1",
"protein_id": "ENSP00000626676.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956617.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956620.1",
"protein_id": "ENSP00000626679.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956620.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956628.1",
"protein_id": "ENSP00000626687.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956628.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956629.1",
"protein_id": "ENSP00000626688.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956629.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956630.1",
"protein_id": "ENSP00000626689.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956630.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956631.1",
"protein_id": "ENSP00000626690.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956631.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln",
"transcript": "ENST00000956632.1",
"protein_id": "ENSP00000626691.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956632.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "ENST00000867734.1",
"protein_id": "ENSP00000537793.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 325,
"cds_start": 857,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867734.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "ENST00000956618.1",
"protein_id": "ENSP00000626677.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 325,
"cds_start": 857,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956618.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "ENST00000867740.1",
"protein_id": "ENSP00000537799.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 306,
"cds_start": 800,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "ENST00000956623.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.347-6053G>A",
"hgvs_p": null,
"transcript": "ENST00000911732.1",
"protein_id": "ENSP00000581791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911732.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.692-6053G>A",
"hgvs_p": null,
"transcript": "XM_006715823.3",
"protein_id": "XP_006715886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715823.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"transcript": "ENST00000465908.5",
"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": "ENST00000465908.5"
}
],
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"dbsnp": "rs368078459",
"frequency_reference_population": 0.00030348697,
"hom_count_reference_population": 2,
"allele_count_reference_population": 466,
"gnomad_exomes_af": 0.000310139,
"gnomad_genomes_af": 0.000243044,
"gnomad_exomes_ac": 429,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005553632974624634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.871,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_058246.4",
"gene_symbol": "DNAJB6",
"hgnc_id": 14888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Gln"
}
],
"clinvar_disease": " Dominant,Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),Limb-Girdle Muscular Dystrophy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Limb-Girdle Muscular Dystrophy, Dominant|not provided|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}