← 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: 4-84715350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=84715350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 84715350,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014991.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp",
"transcript": "NM_014991.6",
"protein_id": "NP_055806.2",
"transcript_support_level": null,
"aa_start": 2637,
"aa_end": null,
"aa_length": 3526,
"cds_start": 7909,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295888.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014991.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp",
"transcript": "ENST00000295888.9",
"protein_id": "ENSP00000295888.4",
"transcript_support_level": 1,
"aa_start": 2637,
"aa_end": null,
"aa_length": 3526,
"cds_start": 7909,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014991.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295888.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.6349C>T",
"hgvs_p": "p.Arg2117Trp",
"transcript": "ENST00000514711.2",
"protein_id": "ENSP00000424987.2",
"transcript_support_level": 2,
"aa_start": 2117,
"aa_end": null,
"aa_length": 3006,
"cds_start": 6349,
"cds_end": null,
"cds_length": 9021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514711.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_005262858.6",
"protein_id": "XP_005262915.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262858.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_011531757.4",
"protein_id": "XP_011530059.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531757.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_011531759.3",
"protein_id": "XP_011530061.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531759.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_011531760.4",
"protein_id": "XP_011530062.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531760.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_017007906.3",
"protein_id": "XP_016863395.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007906.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_017007907.3",
"protein_id": "XP_016863396.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007907.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_017007908.3",
"protein_id": "XP_016863397.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007908.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449846.1",
"protein_id": "XP_047305802.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449846.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449847.1",
"protein_id": "XP_047305803.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449847.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449848.1",
"protein_id": "XP_047305804.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449848.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449849.1",
"protein_id": "XP_047305805.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449849.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449850.1",
"protein_id": "XP_047305806.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449850.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7963C>T",
"hgvs_p": "p.Arg2655Trp",
"transcript": "XM_047449860.1",
"protein_id": "XP_047305816.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 3544,
"cds_start": 7963,
"cds_end": null,
"cds_length": 10635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449860.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7918C>T",
"hgvs_p": "p.Arg2640Trp",
"transcript": "XM_011531761.4",
"protein_id": "XP_011530063.1",
"transcript_support_level": null,
"aa_start": 2640,
"aa_end": null,
"aa_length": 3529,
"cds_start": 7918,
"cds_end": null,
"cds_length": 10590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531761.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7912C>T",
"hgvs_p": "p.Arg2638Trp",
"transcript": "XM_011531762.4",
"protein_id": "XP_011530064.1",
"transcript_support_level": null,
"aa_start": 2638,
"aa_end": null,
"aa_length": 3527,
"cds_start": 7912,
"cds_end": null,
"cds_length": 10584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531762.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp",
"transcript": "XM_011531763.4",
"protein_id": "XP_011530065.1",
"transcript_support_level": null,
"aa_start": 2637,
"aa_end": null,
"aa_length": 3526,
"cds_start": 7909,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531763.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp",
"transcript": "XM_047449851.1",
"protein_id": "XP_047305807.1",
"transcript_support_level": null,
"aa_start": 2637,
"aa_end": null,
"aa_length": 3526,
"cds_start": 7909,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449851.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp",
"transcript": "XM_047449852.1",
"protein_id": "XP_047305808.1",
"transcript_support_level": null,
"aa_start": 2637,
"aa_end": null,
"aa_length": 3526,
"cds_start": 7909,
"cds_end": null,
"cds_length": 10581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449852.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7879C>T",
"hgvs_p": "p.Arg2627Trp",
"transcript": "XM_011531764.4",
"protein_id": "XP_011530066.1",
"transcript_support_level": null,
"aa_start": 2627,
"aa_end": null,
"aa_length": 3516,
"cds_start": 7879,
"cds_end": null,
"cds_length": 10551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531764.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7867C>T",
"hgvs_p": "p.Arg2623Trp",
"transcript": "XM_047449853.1",
"protein_id": "XP_047305809.1",
"transcript_support_level": null,
"aa_start": 2623,
"aa_end": null,
"aa_length": 3512,
"cds_start": 7867,
"cds_end": null,
"cds_length": 10539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449853.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7858C>T",
"hgvs_p": "p.Arg2620Trp",
"transcript": "XM_047449854.1",
"protein_id": "XP_047305810.1",
"transcript_support_level": null,
"aa_start": 2620,
"aa_end": null,
"aa_length": 3509,
"cds_start": 7858,
"cds_end": null,
"cds_length": 10530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449854.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7834C>T",
"hgvs_p": "p.Arg2612Trp",
"transcript": "XM_047449855.1",
"protein_id": "XP_047305811.1",
"transcript_support_level": null,
"aa_start": 2612,
"aa_end": null,
"aa_length": 3501,
"cds_start": 7834,
"cds_end": null,
"cds_length": 10506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449855.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7828C>T",
"hgvs_p": "p.Arg2610Trp",
"transcript": "XM_047449856.1",
"protein_id": "XP_047305812.1",
"transcript_support_level": null,
"aa_start": 2610,
"aa_end": null,
"aa_length": 3499,
"cds_start": 7828,
"cds_end": null,
"cds_length": 10500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449856.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7825C>T",
"hgvs_p": "p.Arg2609Trp",
"transcript": "XM_047449857.1",
"protein_id": "XP_047305813.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 3498,
"cds_start": 7825,
"cds_end": null,
"cds_length": 10497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449857.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7825C>T",
"hgvs_p": "p.Arg2609Trp",
"transcript": "XM_047449858.1",
"protein_id": "XP_047305814.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 3498,
"cds_start": 7825,
"cds_end": null,
"cds_length": 10497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449858.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"hgvs_c": "c.7774C>T",
"hgvs_p": "p.Arg2592Trp",
"transcript": "XM_047449859.1",
"protein_id": "XP_047305815.1",
"transcript_support_level": null,
"aa_start": 2592,
"aa_end": null,
"aa_length": 3481,
"cds_start": 7774,
"cds_end": null,
"cds_length": 10446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449859.1"
}
],
"gene_symbol": "WDFY3",
"gene_hgnc_id": 20751,
"dbsnp": "rs1553924800",
"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": 0.8064489960670471,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8292,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.985,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS3",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014991.6",
"gene_symbol": "WDFY3",
"hgnc_id": 20751,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7909C>T",
"hgvs_p": "p.Arg2637Trp"
}
],
"clinvar_disease": " autosomal dominant, primary,Microcephaly 18,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Microcephaly 18, primary, autosomal dominant|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}