← 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: 14-22951598-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22951598&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22951598,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001166269.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "NM_001166269.2",
"protein_id": "NP_001159741.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 363,
"cds_start": 422,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "ENST00000541587.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000541587.6",
"protein_id": "ENSP00000441026.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 363,
"cds_start": 422,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "NM_001166269.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000206474.11",
"protein_id": "ENSP00000206474.7",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 363,
"cds_start": 422,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000490506.5",
"protein_id": "ENSP00000452260.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 239,
"cds_start": 50,
"cds_end": null,
"cds_length": 720,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "ENST00000342454.12",
"protein_id": "ENSP00000342776.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259132",
"gene_hgnc_id": null,
"hgvs_c": "c.50-3585G>T",
"hgvs_p": null,
"transcript": "ENST00000555074.1",
"protein_id": "ENSP00000450856.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "NM_017815.3",
"protein_id": "NP_060285.2",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 363,
"cds_start": 422,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000555040.5",
"protein_id": "ENSP00000452165.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 278,
"cds_start": 422,
"cds_end": null,
"cds_length": 839,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000554516.5",
"protein_id": "ENSP00000452261.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 186,
"cds_start": 422,
"cds_end": null,
"cds_length": 562,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000557591.5",
"protein_id": "ENSP00000452058.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 422,
"cds_end": null,
"cds_length": 481,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.365G>T",
"hgvs_p": "p.Gly122Val",
"transcript": "ENST00000553420.1",
"protein_id": "ENSP00000450612.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 146,
"cds_start": 365,
"cds_end": null,
"cds_length": 441,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000554406.1",
"protein_id": "ENSP00000450680.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 16,
"cds_start": 50,
"cds_end": null,
"cds_length": 52,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.170G>T",
"hgvs_p": null,
"transcript": "ENST00000553859.5",
"protein_id": "ENSP00000450542.1",
"transcript_support_level": 3,
"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": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.642G>T",
"hgvs_p": null,
"transcript": "ENST00000554373.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.602G>T",
"hgvs_p": null,
"transcript": "ENST00000554651.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "NM_001166270.2",
"protein_id": "NP_001159742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "ENST00000555367.5",
"protein_id": "ENSP00000452239.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "ENST00000555986.5",
"protein_id": "ENSP00000451018.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "ENST00000347758.6",
"protein_id": "ENSP00000343473.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+730G>T",
"hgvs_p": null,
"transcript": "ENST00000556915.5",
"protein_id": "ENSP00000452595.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.159-3532C>A",
"hgvs_p": null,
"transcript": "ENST00000548322.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.195-2733C>A",
"hgvs_p": null,
"transcript": "ENST00000548819.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.423+3502G>T",
"hgvs_p": null,
"transcript": "ENST00000553794.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.487+730G>T",
"hgvs_p": null,
"transcript": "ENST00000554349.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.352+730G>T",
"hgvs_p": null,
"transcript": "ENST00000554446.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.147-2733C>A",
"hgvs_p": null,
"transcript": "ENST00000668190.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.191-2733C>A",
"hgvs_p": null,
"transcript": "ENST00000702357.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.195-2733C>A",
"hgvs_p": null,
"transcript": "NR_110002.1",
"protein_id": null,
"transcript_support_level": null,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"dbsnp": "rs375695145",
"frequency_reference_population": 6.8408906e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84089e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5932644009590149,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4015,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.936,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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_001166269.2",
"gene_symbol": "HAUS4",
"hgnc_id": 20163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555074.1",
"gene_symbol": "ENSG00000259132",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.50-3585G>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548322.2",
"gene_symbol": "PRMT5-DT",
"hgnc_id": 55482,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.159-3532C>A",
"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
}