← 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: 6-35286367-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35286367&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35286367,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003427.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "NM_003427.5",
"protein_id": "NP_003418.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 570,
"cds_start": 200,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "ENST00000373953.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003427.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000373953.8",
"protein_id": "ENSP00000363064.3",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 570,
"cds_start": 200,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "NM_003427.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373953.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000339411.5",
"protein_id": "ENSP00000344097.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 515,
"cds_start": 200,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339411.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "n.609G>A",
"hgvs_p": null,
"transcript": "ENST00000484932.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484932.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905457.1",
"protein_id": "ENSP00000575516.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 582,
"cds_start": 200,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905457.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Gly73Asp",
"transcript": "ENST00000905439.1",
"protein_id": "ENSP00000575498.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 576,
"cds_start": 218,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905439.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000944836.1",
"protein_id": "ENSP00000614895.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 573,
"cds_start": 200,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944836.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000905449.1",
"protein_id": "ENSP00000575508.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 571,
"cds_start": 190,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905449.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905434.1",
"protein_id": "ENSP00000575493.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 570,
"cds_start": 200,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905434.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905451.1",
"protein_id": "ENSP00000575510.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 570,
"cds_start": 200,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905451.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905436.1",
"protein_id": "ENSP00000575495.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 569,
"cds_start": 200,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905436.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000905438.1",
"protein_id": "ENSP00000575497.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 569,
"cds_start": 197,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905438.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000905444.1",
"protein_id": "ENSP00000575503.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 569,
"cds_start": 197,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905444.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905446.1",
"protein_id": "ENSP00000575505.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 569,
"cds_start": 200,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905446.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "ENST00000905455.1",
"protein_id": "ENSP00000575514.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 569,
"cds_start": 184,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905455.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000934067.1",
"protein_id": "ENSP00000604126.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 569,
"cds_start": 197,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934067.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905442.1",
"protein_id": "ENSP00000575501.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 560,
"cds_start": 200,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905442.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905445.1",
"protein_id": "ENSP00000575504.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 542,
"cds_start": 200,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905445.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000944835.1",
"protein_id": "ENSP00000614894.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 527,
"cds_start": 200,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944835.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Gly73Asp",
"transcript": "ENST00000905441.1",
"protein_id": "ENSP00000575500.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 521,
"cds_start": 218,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905441.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Gly73Asp",
"transcript": "ENST00000905458.1",
"protein_id": "ENSP00000575517.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 521,
"cds_start": 218,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905458.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000944834.1",
"protein_id": "ENSP00000614893.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 518,
"cds_start": 200,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944834.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "NM_001292032.2",
"protein_id": "NP_001278961.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 515,
"cds_start": 200,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292032.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905437.1",
"protein_id": "ENSP00000575496.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 514,
"cds_start": 200,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905437.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000905447.1",
"protein_id": "ENSP00000575506.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 514,
"cds_start": 197,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905447.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000934069.1",
"protein_id": "ENSP00000604128.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 514,
"cds_start": 200,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934069.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000944831.1",
"protein_id": "ENSP00000614890.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 514,
"cds_start": 197,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944831.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905443.1",
"protein_id": "ENSP00000575502.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 510,
"cds_start": 200,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905443.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000944829.1",
"protein_id": "ENSP00000614888.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 510,
"cds_start": 200,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944829.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000934068.1",
"protein_id": "ENSP00000604127.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 505,
"cds_start": 200,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934068.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905460.1",
"protein_id": "ENSP00000575519.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 487,
"cds_start": 200,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905460.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905454.1",
"protein_id": "ENSP00000575513.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 476,
"cds_start": 200,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905454.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Gly73Asp",
"transcript": "ENST00000944833.1",
"protein_id": "ENSP00000614892.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 461,
"cds_start": 218,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944833.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905435.1",
"protein_id": "ENSP00000575494.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 455,
"cds_start": 200,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905435.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905448.1",
"protein_id": "ENSP00000575507.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 455,
"cds_start": 200,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905448.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000905456.1",
"protein_id": "ENSP00000575515.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 454,
"cds_start": 197,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905456.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "ENST00000944837.1",
"protein_id": "ENSP00000614896.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 454,
"cds_start": 184,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944837.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905440.1",
"protein_id": "ENSP00000575499.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 432,
"cds_start": 200,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905440.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905459.1",
"protein_id": "ENSP00000575518.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 432,
"cds_start": 200,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905459.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000905452.1",
"protein_id": "ENSP00000575511.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 200,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905452.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000944830.1",
"protein_id": "ENSP00000614889.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 200,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944830.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "ENST00000905450.1",
"protein_id": "ENSP00000575509.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 376,
"cds_start": 184,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905450.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000469195.5",
"protein_id": "ENSP00000419106.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 339,
"cds_start": 200,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469195.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419299.1",
"protein_id": "XP_047275255.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 579,
"cds_start": 200,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419299.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419300.1",
"protein_id": "XP_047275256.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 579,
"cds_start": 200,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419300.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_017011249.3",
"protein_id": "XP_016866738.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 570,
"cds_start": 200,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011249.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419301.1",
"protein_id": "XP_047275257.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 549,
"cds_start": 200,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419301.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419302.1",
"protein_id": "XP_047275258.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 540,
"cds_start": 200,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419302.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Ala10Thr",
"transcript": "XM_047419303.1",
"protein_id": "XP_047275259.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 526,
"cds_start": 28,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419303.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419304.1",
"protein_id": "XP_047275260.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 524,
"cds_start": 200,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419304.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419305.1",
"protein_id": "XP_047275261.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 524,
"cds_start": 200,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419305.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Ala10Thr",
"transcript": "XM_017011255.2",
"protein_id": "XP_016866744.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 517,
"cds_start": 28,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011255.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_017011256.2",
"protein_id": "XP_016866745.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 515,
"cds_start": 200,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011256.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419306.1",
"protein_id": "XP_047275262.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 499,
"cds_start": 200,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419306.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "XM_047419307.1",
"protein_id": "XP_047275263.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 408,
"cds_start": 200,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.154+159G>A",
"hgvs_p": null,
"transcript": "ENST00000905453.1",
"protein_id": "ENSP00000575512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": null,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.154+159G>A",
"hgvs_p": null,
"transcript": "ENST00000944832.1",
"protein_id": "ENSP00000614891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "n.200G>A",
"hgvs_p": null,
"transcript": "ENST00000229405.8",
"protein_id": "ENSP00000229405.4",
"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": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000229405.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "n.533G>A",
"hgvs_p": null,
"transcript": "ENST00000460229.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "n.526G>A",
"hgvs_p": null,
"transcript": "ENST00000486891.5",
"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": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486891.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "n.774G>A",
"hgvs_p": null,
"transcript": "ENST00000491400.5",
"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": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"hgvs_c": "c.-608G>A",
"hgvs_p": null,
"transcript": "XM_011514856.4",
"protein_id": "XP_011513158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514856.4"
}
],
"gene_symbol": "ZNF76",
"gene_hgnc_id": 13149,
"dbsnp": null,
"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": 0.7516735792160034,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.492,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003427.5",
"gene_symbol": "ZNF76",
"hgnc_id": 13149,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp"
}
],
"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
}