← 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: X-47447477-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47447477&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47447477,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001324155.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_001324144.2",
"protein_id": "NP_001311073.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "ENST00000684689.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324144.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000684689.1",
"protein_id": "ENSP00000508254.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "NM_001324144.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684689.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000313116.11",
"protein_id": "ENSP00000315173.7",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313116.11"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000377065.8",
"protein_id": "ENSP00000366265.4",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377065.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.His807Tyr",
"transcript": "NM_001324155.1",
"protein_id": "NP_001311084.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 821,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324155.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.His807Tyr",
"transcript": "ENST00000915706.1",
"protein_id": "ENSP00000585765.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 821,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915706.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.His807Tyr",
"transcript": "ENST00000968634.1",
"protein_id": "ENSP00000638693.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 821,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968634.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "NM_001324154.1",
"protein_id": "NP_001311083.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324154.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "ENST00000915708.1",
"protein_id": "ENSP00000585767.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915708.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "ENST00000968632.1",
"protein_id": "ENSP00000638691.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968632.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "ENST00000968640.1",
"protein_id": "ENSP00000638699.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968640.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "NM_001324151.2",
"protein_id": "NP_001311080.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324151.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "NM_001324153.2",
"protein_id": "NP_001311082.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324153.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "NM_001324142.2",
"protein_id": "NP_001311071.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324142.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "NM_001324148.2",
"protein_id": "NP_001311077.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324148.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_001324140.2",
"protein_id": "NP_001311069.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324140.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_001324147.2",
"protein_id": "NP_001311076.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324147.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_001324150.2",
"protein_id": "NP_001311079.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324150.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_007130.4",
"protein_id": "NP_009061.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007130.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "NM_153380.3",
"protein_id": "NP_700359.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153380.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894174.1",
"protein_id": "ENSP00000564233.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894174.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894175.1",
"protein_id": "ENSP00000564234.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894175.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894176.1",
"protein_id": "ENSP00000564235.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894176.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894177.1",
"protein_id": "ENSP00000564236.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894177.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894178.1",
"protein_id": "ENSP00000564237.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894178.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894179.1",
"protein_id": "ENSP00000564238.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894179.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894180.1",
"protein_id": "ENSP00000564239.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894180.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894181.1",
"protein_id": "ENSP00000564240.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894181.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894182.1",
"protein_id": "ENSP00000564241.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894182.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000894183.1",
"protein_id": "ENSP00000564242.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894183.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000915705.1",
"protein_id": "ENSP00000585764.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915705.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000915707.1",
"protein_id": "ENSP00000585766.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915707.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968633.1",
"protein_id": "ENSP00000638692.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968633.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968635.1",
"protein_id": "ENSP00000638694.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968635.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968636.1",
"protein_id": "ENSP00000638695.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968636.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968637.1",
"protein_id": "ENSP00000638696.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968637.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968638.1",
"protein_id": "ENSP00000638697.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968638.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "ENST00000968639.1",
"protein_id": "ENSP00000638698.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968639.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2191C>T",
"hgvs_p": "p.His731Tyr",
"transcript": "NM_001324156.1",
"protein_id": "NP_001311085.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324156.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.His729Tyr",
"transcript": "NM_001324157.1",
"protein_id": "NP_001311086.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 743,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324157.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.His729Tyr",
"transcript": "ENST00000968641.1",
"protein_id": "ENSP00000638700.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 743,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 4043,
"cdna_end": null,
"cdna_length": 6537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968641.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324139.2",
"protein_id": "NP_001311068.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324139.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324141.2",
"protein_id": "NP_001311070.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324141.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324143.2",
"protein_id": "NP_001311072.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324143.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324145.2",
"protein_id": "NP_001311074.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324145.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324149.2",
"protein_id": "NP_001311078.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324149.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "NM_001324152.2",
"protein_id": "NP_001311081.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324152.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_006724550.4",
"protein_id": "XP_006724613.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724550.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029810.3",
"protein_id": "XP_016885299.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029810.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029811.3",
"protein_id": "XP_016885300.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029811.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029812.2",
"protein_id": "XP_016885301.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029812.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029813.2",
"protein_id": "XP_016885302.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029813.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029814.3",
"protein_id": "XP_016885303.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029814.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_017029815.2",
"protein_id": "XP_016885304.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2730,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029815.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.His799Tyr",
"transcript": "XM_047442471.1",
"protein_id": "XP_047298427.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 813,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442471.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "XM_006724555.4",
"protein_id": "XP_006724618.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724555.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "XM_017029816.2",
"protein_id": "XP_016885305.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029816.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "XM_047442472.1",
"protein_id": "XP_047298428.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442472.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "XM_047442473.1",
"protein_id": "XP_047298429.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442473.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "XM_047442474.1",
"protein_id": "XP_047298430.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 789,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442474.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442475.1",
"protein_id": "XP_047298431.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442475.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442476.1",
"protein_id": "XP_047298432.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442476.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442477.1",
"protein_id": "XP_047298433.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442477.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442478.1",
"protein_id": "XP_047298434.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442478.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442479.1",
"protein_id": "XP_047298435.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442479.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.His767Tyr",
"transcript": "XM_047442480.1",
"protein_id": "XP_047298436.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 781,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442480.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "XM_017029817.2",
"protein_id": "XP_016885306.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029817.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "XM_047442481.1",
"protein_id": "XP_047298437.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442481.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.His765Tyr",
"transcript": "XM_047442482.1",
"protein_id": "XP_047298438.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 779,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442482.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "XM_047442483.1",
"protein_id": "XP_047298439.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442483.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.His679Tyr",
"transcript": "XM_047442484.1",
"protein_id": "XP_047298440.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 693,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442484.1"
}
],
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"dbsnp": "rs779366833",
"frequency_reference_population": 0.000006376331,
"hom_count_reference_population": 1,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000637633,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1863858997821808,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.7898,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.251,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001324155.1",
"gene_symbol": "ZNF41",
"hgnc_id": 13107,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.His807Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}