← Back to variant description
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: 4-84677403-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=84677403&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 84677403,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000295888.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null,
"transcript": "NM_014991.6",
"protein_id": "NP_055806.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3526,
"cds_start": -4,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14559,
"mane_select": "ENST00000295888.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null,
"transcript": "ENST00000295888.9",
"protein_id": "ENSP00000295888.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3526,
"cds_start": -4,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14559,
"mane_select": "NM_014991.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "n.1012-7C>G",
"hgvs_p": null,
"transcript": "ENST00000425179.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.8700-7C>G",
"hgvs_p": null,
"transcript": "ENST00000514711.2",
"protein_id": "ENSP00000424987.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 3006,
"cds_start": -4,
"cds_end": null,
"cds_length": 9021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_005262858.6",
"protein_id": "XP_005262915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 67,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_011531757.4",
"protein_id": "XP_011530059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_011531759.3",
"protein_id": "XP_011530061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_011531760.4",
"protein_id": "XP_011530062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_017007906.3",
"protein_id": "XP_016863395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_017007907.3",
"protein_id": "XP_016863396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_017007908.3",
"protein_id": "XP_016863397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449846.1",
"protein_id": "XP_047305802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449847.1",
"protein_id": "XP_047305803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449848.1",
"protein_id": "XP_047305804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449849.1",
"protein_id": "XP_047305805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449850.1",
"protein_id": "XP_047305806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10314-7C>G",
"hgvs_p": null,
"transcript": "XM_047449860.1",
"protein_id": "XP_047305816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3544,
"cds_start": -4,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 67,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10269-7C>G",
"hgvs_p": null,
"transcript": "XM_011531761.4",
"protein_id": "XP_011530063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3529,
"cds_start": -4,
"cds_end": null,
"cds_length": 10590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10263-7C>G",
"hgvs_p": null,
"transcript": "XM_011531762.4",
"protein_id": "XP_011530064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3527,
"cds_start": -4,
"cds_end": null,
"cds_length": 10584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null,
"transcript": "XM_011531763.4",
"protein_id": "XP_011530065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3526,
"cds_start": -4,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 67,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null,
"transcript": "XM_047449851.1",
"protein_id": "XP_047305807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3526,
"cds_start": -4,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null,
"transcript": "XM_047449852.1",
"protein_id": "XP_047305808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3526,
"cds_start": -4,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10230-7C>G",
"hgvs_p": null,
"transcript": "XM_011531764.4",
"protein_id": "XP_011530066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3516,
"cds_start": -4,
"cds_end": null,
"cds_length": 10551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10218-7C>G",
"hgvs_p": null,
"transcript": "XM_047449853.1",
"protein_id": "XP_047305809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3512,
"cds_start": -4,
"cds_end": null,
"cds_length": 10539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10209-7C>G",
"hgvs_p": null,
"transcript": "XM_047449854.1",
"protein_id": "XP_047305810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3509,
"cds_start": -4,
"cds_end": null,
"cds_length": 10530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 66,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10185-7C>G",
"hgvs_p": null,
"transcript": "XM_047449855.1",
"protein_id": "XP_047305811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3501,
"cds_start": -4,
"cds_end": null,
"cds_length": 10506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10179-7C>G",
"hgvs_p": null,
"transcript": "XM_047449856.1",
"protein_id": "XP_047305812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3499,
"cds_start": -4,
"cds_end": null,
"cds_length": 10500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10176-7C>G",
"hgvs_p": null,
"transcript": "XM_047449857.1",
"protein_id": "XP_047305813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3498,
"cds_start": -4,
"cds_end": null,
"cds_length": 10497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10176-7C>G",
"hgvs_p": null,
"transcript": "XM_047449858.1",
"protein_id": "XP_047305814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3498,
"cds_start": -4,
"cds_end": null,
"cds_length": 10497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.10125-7C>G",
"hgvs_p": null,
"transcript": "XM_047449859.1",
"protein_id": "XP_047305815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3481,
"cds_start": -4,
"cds_end": null,
"cds_length": 10446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"dbsnp": "rs193920758",
"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": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.503,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000299619770665082,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295888.9",
"gene_symbol": "WDFY3",
"hgnc_id": 20751,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.10260-7C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}