← 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: 8-144107816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144107816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144107816,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001316309.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "NM_001316309.2",
"protein_id": "NP_001303238.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1622,
"cds_start": 66,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": "ENST00000323662.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316309.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000323662.9",
"protein_id": "ENSP00000320648.8",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 1622,
"cds_start": 66,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": "NM_001316309.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323662.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "n.66G>C",
"hgvs_p": null,
"transcript": "ENST00000534167.5",
"protein_id": "ENSP00000435391.1",
"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": 7119,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534167.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Pro",
"transcript": "XM_047421748.1",
"protein_id": "XP_047277704.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1650,
"cds_start": 8,
"cds_end": null,
"cds_length": 4953,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 7058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421748.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Pro",
"transcript": "XM_047421755.1",
"protein_id": "XP_047277711.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1600,
"cds_start": 8,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421755.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421746.1",
"protein_id": "XP_047277702.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1665,
"cds_start": 66,
"cds_end": null,
"cds_length": 4998,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421746.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421747.1",
"protein_id": "XP_047277703.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1664,
"cds_start": 66,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 7042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421747.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421749.1",
"protein_id": "XP_047277705.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1648,
"cds_start": 66,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421749.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421750.1",
"protein_id": "XP_047277706.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1639,
"cds_start": 66,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421750.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421751.1",
"protein_id": "XP_047277707.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1633,
"cds_start": 66,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421751.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421752.1",
"protein_id": "XP_047277708.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1623,
"cds_start": 66,
"cds_end": null,
"cds_length": 4872,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421752.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421753.1",
"protein_id": "XP_047277709.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1622,
"cds_start": 66,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421753.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047421754.1",
"protein_id": "XP_047277710.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1611,
"cds_start": 66,
"cds_end": null,
"cds_length": 4836,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 6883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "n.107+202C>G",
"hgvs_p": null,
"transcript": "ENST00000533184.1",
"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": 352,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000533184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "NM_032272.5",
"protein_id": "NP_115648.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "ENST00000322428.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000322428.10",
"protein_id": "ENSP00000318604.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "NM_032272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322428.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876672.1",
"protein_id": "ENSP00000546731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000534585.5",
"protein_id": "ENSP00000433979.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534585.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876670.1",
"protein_id": "ENSP00000546729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876671.1",
"protein_id": "ENSP00000546730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964344.1",
"protein_id": "ENSP00000634403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876667.1",
"protein_id": "ENSP00000546726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876673.1",
"protein_id": "ENSP00000546732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000715465.1",
"protein_id": "ENSP00000520454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876665.1",
"protein_id": "ENSP00000546724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876666.1",
"protein_id": "ENSP00000546725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876668.1",
"protein_id": "ENSP00000546727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876674.1",
"protein_id": "ENSP00000546733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876675.1",
"protein_id": "ENSP00000546734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876676.1",
"protein_id": "ENSP00000546735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964343.1",
"protein_id": "ENSP00000634402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964345.1",
"protein_id": "ENSP00000634404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964350.1",
"protein_id": "ENSP00000634409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000876669.1",
"protein_id": "ENSP00000546728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964346.1",
"protein_id": "ENSP00000634405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964347.1",
"protein_id": "ENSP00000634406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964348.1",
"protein_id": "ENSP00000634407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.*707G>C",
"hgvs_p": null,
"transcript": "ENST00000964349.1",
"protein_id": "ENSP00000634408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964349.1"
}
],
"gene_symbol": "WDR97",
"gene_hgnc_id": 26959,
"dbsnp": "rs768624712",
"frequency_reference_population": 0.000002845946,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000181656,
"gnomad_genomes_af": 0.00000656763,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.162,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001316309.2",
"gene_symbol": "WDR97",
"hgnc_id": 26959,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.66G>C",
"hgvs_p": "p.Ala22Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000533184.1",
"gene_symbol": "SHARPIN",
"hgnc_id": 25321,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.107+202C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032272.5",
"gene_symbol": "MAF1",
"hgnc_id": 24966,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*707G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}