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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: 5-133992969-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=133992969&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 133992969,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001401028.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_003374.3",
"protein_id": "NP_003365.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265333.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003374.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000265333.8",
"protein_id": "ENSP00000265333.3",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265333.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000395044.7",
"protein_id": "ENSP00000378484.3",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395044.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000395047.6",
"protein_id": "ENSP00000378487.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395047.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401028.1",
"protein_id": "NP_001387957.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 297,
"cds_start": 44,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401028.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876054.1",
"protein_id": "ENSP00000546113.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 297,
"cds_start": 44,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876054.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876057.1",
"protein_id": "ENSP00000546116.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 297,
"cds_start": 44,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876057.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000935310.1",
"protein_id": "ENSP00000605369.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 297,
"cds_start": 44,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935310.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876058.1",
"protein_id": "ENSP00000546117.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 296,
"cds_start": 44,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876058.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000935312.1",
"protein_id": "ENSP00000605371.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 296,
"cds_start": 44,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935312.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000961138.1",
"protein_id": "ENSP00000631197.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 295,
"cds_start": 44,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961138.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876059.1",
"protein_id": "ENSP00000546118.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 292,
"cds_start": 44,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876059.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876065.1",
"protein_id": "ENSP00000546124.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 292,
"cds_start": 44,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876065.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "ENST00000876056.1",
"protein_id": "ENSP00000546115.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 291,
"cds_start": 44,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876056.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401008.1",
"protein_id": "NP_001387937.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401008.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401009.1",
"protein_id": "NP_001387938.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401009.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401010.1",
"protein_id": "NP_001387939.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401010.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401011.1",
"protein_id": "NP_001387940.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401011.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401016.1",
"protein_id": "NP_001387945.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401016.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401017.1",
"protein_id": "NP_001387946.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401017.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401018.1",
"protein_id": "NP_001387947.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401018.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr",
"transcript": "NM_001401020.1",
"protein_id": "NP_001387949.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 283,
"cds_start": 44,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401020.1"
},
{
"aa_ref": "R",
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"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.-330G>C",
"hgvs_p": null,
"transcript": "NM_001401031.1",
"protein_id": "NP_001387960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "c.-380G>C",
"hgvs_p": null,
"transcript": "NM_001401032.1",
"protein_id": "NP_001387961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"hgvs_c": "n.96G>C",
"hgvs_p": null,
"transcript": "ENST00000466080.1",
"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": "ENST00000466080.1"
}
],
"gene_symbol": "VDAC1",
"gene_hgnc_id": 12669,
"dbsnp": "rs1753162445",
"frequency_reference_population": 0.0000013685639,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136856,
"gnomad_genomes_af": 0.00000656789,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7589322328567505,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001401028.1",
"gene_symbol": "VDAC1",
"hgnc_id": 12669,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}