← 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: 10-94594702-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94594702&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94594702,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001289067.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2096A>G",
"hgvs_p": "p.Gln699Arg",
"transcript": "NM_018063.5",
"protein_id": "NP_060533.2",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 838,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348459.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018063.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2096A>G",
"hgvs_p": "p.Gln699Arg",
"transcript": "ENST00000348459.10",
"protein_id": "ENSP00000239027.7",
"transcript_support_level": 1,
"aa_start": 699,
"aa_end": null,
"aa_length": 838,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018063.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348459.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.Gln745Arg",
"transcript": "ENST00000394036.6",
"protein_id": "ENSP00000377601.2",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 884,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394036.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Gln601Arg",
"transcript": "ENST00000394045.6",
"protein_id": "ENSP00000377609.1",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 740,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394045.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.Gln745Arg",
"transcript": "NM_001289067.2",
"protein_id": "NP_001275996.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 884,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289067.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Gln721Arg",
"transcript": "ENST00000939526.1",
"protein_id": "ENSP00000609585.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 860,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939526.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Gln692Arg",
"transcript": "ENST00000939524.1",
"protein_id": "ENSP00000609583.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 831,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939524.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2048A>G",
"hgvs_p": "p.Gln683Arg",
"transcript": "NM_001289068.2",
"protein_id": "NP_001275997.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 822,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289068.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2048A>G",
"hgvs_p": "p.Gln683Arg",
"transcript": "ENST00000419900.6",
"protein_id": "ENSP00000409945.2",
"transcript_support_level": 3,
"aa_start": 683,
"aa_end": null,
"aa_length": 822,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419900.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Gln674Arg",
"transcript": "ENST00000939523.1",
"protein_id": "ENSP00000609582.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 821,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939523.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Gln667Arg",
"transcript": "NM_001289069.2",
"protein_id": "NP_001275998.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 806,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289069.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Gln667Arg",
"transcript": "ENST00000698675.1",
"protein_id": "ENSP00000513940.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 806,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698675.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Gln642Arg",
"transcript": "ENST00000939522.1",
"protein_id": "ENSP00000609581.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 781,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939522.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Gln623Arg",
"transcript": "ENST00000939525.1",
"protein_id": "ENSP00000609584.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 762,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939525.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Gln601Arg",
"transcript": "NM_001289070.2",
"protein_id": "NP_001275999.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 740,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289070.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Gln581Arg",
"transcript": "ENST00000939528.1",
"protein_id": "ENSP00000609587.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 720,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939528.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1724A>G",
"hgvs_p": "p.Gln575Arg",
"transcript": "NM_001289071.2",
"protein_id": "NP_001276000.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 714,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289071.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1706A>G",
"hgvs_p": "p.Gln569Arg",
"transcript": "NM_001289072.2",
"protein_id": "NP_001276001.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 708,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289072.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1706A>G",
"hgvs_p": "p.Gln569Arg",
"transcript": "ENST00000698799.1",
"protein_id": "ENSP00000513942.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 708,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698799.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Gln561Arg",
"transcript": "NM_001289073.2",
"protein_id": "NP_001276002.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 700,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289073.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Gln349Arg",
"transcript": "ENST00000939527.1",
"protein_id": "ENSP00000609586.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 488,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939527.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Gln338Arg",
"transcript": "NM_001289074.2",
"protein_id": "NP_001276003.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 477,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289074.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.Gln293Arg",
"transcript": "NM_001289075.2",
"protein_id": "NP_001276004.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 432,
"cds_start": 878,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289075.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Gln257Arg",
"transcript": "ENST00000371327.3",
"protein_id": "ENSP00000360378.2",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 431,
"cds_start": 770,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371327.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1641A>G",
"hgvs_p": null,
"transcript": "ENST00000371332.9",
"protein_id": "ENSP00000360383.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371332.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.2096A>G",
"hgvs_p": null,
"transcript": "ENST00000475263.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475263.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1846A>G",
"hgvs_p": null,
"transcript": "ENST00000630929.3",
"protein_id": "ENSP00000485823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630929.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*861A>G",
"hgvs_p": null,
"transcript": "ENST00000698800.1",
"protein_id": "ENSP00000513943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1067A>G",
"hgvs_p": null,
"transcript": "ENST00000698830.1",
"protein_id": "ENSP00000513967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.7353A>G",
"hgvs_p": null,
"transcript": "XR_007061960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1641A>G",
"hgvs_p": null,
"transcript": "ENST00000371332.9",
"protein_id": "ENSP00000360383.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371332.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1846A>G",
"hgvs_p": null,
"transcript": "ENST00000630929.3",
"protein_id": "ENSP00000485823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630929.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*861A>G",
"hgvs_p": null,
"transcript": "ENST00000698800.1",
"protein_id": "ENSP00000513943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"hgvs_c": "n.*1067A>G",
"hgvs_p": null,
"transcript": "ENST00000698830.1",
"protein_id": "ENSP00000513967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698830.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244332",
"gene_hgnc_id": null,
"hgvs_c": "n.208-16099A>G",
"hgvs_p": null,
"transcript": "ENST00000432120.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000432120.1"
}
],
"gene_symbol": "HELLS",
"gene_hgnc_id": 4861,
"dbsnp": "rs879253733",
"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": 0.952989935874939,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.29,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001289067.2",
"gene_symbol": "HELLS",
"hgnc_id": 4861,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.Gln745Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000432120.1",
"gene_symbol": "ENSG00000244332",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-16099A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}