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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: 10-130160833-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=130160833&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 130160833,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006541.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "NM_006541.5",
"protein_id": "NP_006532.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 335,
"cds_start": 314,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331244.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006541.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000331244.10",
"protein_id": "ENSP00000330836.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 335,
"cds_start": 314,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006541.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331244.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"transcript": "ENST00000481034.1",
"protein_id": "ENSP00000435445.1",
"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": "ENST00000481034.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "ENST00000861475.1",
"protein_id": "ENSP00000531534.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 366,
"cds_start": 407,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861475.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000948450.1",
"protein_id": "ENSP00000618509.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 363,
"cds_start": 314,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948450.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000948448.1",
"protein_id": "ENSP00000618507.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 348,
"cds_start": 314,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948448.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "ENST00000948449.1",
"protein_id": "ENSP00000618508.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 342,
"cds_start": 407,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948449.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "NM_001199868.2",
"protein_id": "NP_001186797.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 335,
"cds_start": 314,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199868.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000368644.5",
"protein_id": "ENSP00000357633.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 335,
"cds_start": 314,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368644.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000916454.1",
"protein_id": "ENSP00000586513.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 334,
"cds_start": 314,
"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": "ENST00000916454.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000948445.1",
"protein_id": "ENSP00000618504.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 334,
"cds_start": 314,
"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": "ENST00000948445.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000916455.1",
"protein_id": "ENSP00000586514.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 332,
"cds_start": 305,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916455.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000948446.1",
"protein_id": "ENSP00000618505.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 311,
"cds_start": 314,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948446.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000861471.1",
"protein_id": "ENSP00000531530.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 310,
"cds_start": 239,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861471.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000861472.1",
"protein_id": "ENSP00000531531.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 304,
"cds_start": 314,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861472.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000948447.1",
"protein_id": "ENSP00000618506.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 298,
"cds_start": 314,
"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": "ENST00000948447.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000916458.1",
"protein_id": "ENSP00000586517.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 295,
"cds_start": 314,
"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": "ENST00000916458.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val",
"transcript": "ENST00000916456.1",
"protein_id": "ENSP00000586515.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 273,
"cds_start": 314,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916456.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000948451.1",
"protein_id": "ENSP00000618510.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 270,
"cds_start": 239,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.-125C>T",
"hgvs_p": null,
"transcript": "NM_001321980.2",
"protein_id": "NP_001308909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321980.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.202-10751C>T",
"hgvs_p": null,
"transcript": "ENST00000861473.1",
"protein_id": "ENSP00000531532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861473.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.93-8600C>T",
"hgvs_p": null,
"transcript": "ENST00000916457.1",
"protein_id": "ENSP00000586516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916457.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.93-14034C>T",
"hgvs_p": null,
"transcript": "ENST00000916459.1",
"protein_id": "ENSP00000586518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916459.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "c.201+15514C>T",
"hgvs_p": null,
"transcript": "ENST00000861474.1",
"protein_id": "ENSP00000531533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000486974.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000486974.1"
}
],
"gene_symbol": "GLRX3",
"gene_hgnc_id": 15987,
"dbsnp": "rs1427311436",
"frequency_reference_population": 0.000004975477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000412139,
"gnomad_genomes_af": 0.0000131522,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.571552574634552,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.1847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.262,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006541.5",
"gene_symbol": "GLRX3",
"hgnc_id": 15987,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ala105Val"
}
],
"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
}