← 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: 11-3359965-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3359965&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3359965,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130520.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Gly348Asp",
"transcript": "NM_001130520.3",
"protein_id": "NP_001123992.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 629,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130520.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Gly348Asp",
"transcript": "ENST00000399602.9",
"protein_id": "ENSP00000382511.4",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 629,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130520.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399602.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Gly325Asp",
"transcript": "ENST00000005082.13",
"protein_id": "ENSP00000005082.9",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 606,
"cds_start": 974,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000005082.13"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Asp",
"transcript": "ENST00000354599.10",
"protein_id": "ENSP00000346613.6",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 557,
"cds_start": 827,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354599.10"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"transcript": "ENST00000941946.1",
"protein_id": "ENSP00000612005.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 639,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941946.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Gly352Asp",
"transcript": "ENST00000620374.4",
"protein_id": "ENSP00000477630.1",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 633,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620374.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Gly345Asp",
"transcript": "ENST00000928996.1",
"protein_id": "ENSP00000599055.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 626,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928996.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Gly329Asp",
"transcript": "NM_001242841.2",
"protein_id": "NP_001229770.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 610,
"cds_start": 986,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242841.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Gly329Asp",
"transcript": "ENST00000526601.5",
"protein_id": "ENSP00000435828.1",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 610,
"cds_start": 986,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526601.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Gly325Asp",
"transcript": "NM_001130519.3",
"protein_id": "NP_001123991.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 606,
"cds_start": 974,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130519.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Gly311Asp",
"transcript": "NM_001256824.2",
"protein_id": "NP_001243753.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 592,
"cds_start": 932,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256824.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Gly307Asp",
"transcript": "ENST00000928995.1",
"protein_id": "ENSP00000599054.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 588,
"cds_start": 920,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928995.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Gly303Asp",
"transcript": "NM_001242842.2",
"protein_id": "NP_001229771.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 584,
"cds_start": 908,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242842.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Gly299Asp",
"transcript": "ENST00000859310.1",
"protein_id": "ENSP00000529369.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 580,
"cds_start": 896,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859310.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Gly286Asp",
"transcript": "ENST00000941947.1",
"protein_id": "ENSP00000612006.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 567,
"cds_start": 857,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941947.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Asp",
"transcript": "NM_001242843.2",
"protein_id": "NP_001229772.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 561,
"cds_start": 839,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242843.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Asp",
"transcript": "NM_001256825.2",
"protein_id": "NP_001243754.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 561,
"cds_start": 839,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256825.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Asp",
"transcript": "ENST00000343338.11",
"protein_id": "ENSP00000344483.7",
"transcript_support_level": 4,
"aa_start": 280,
"aa_end": null,
"aa_length": 561,
"cds_start": 839,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343338.11"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Asp",
"transcript": "ENST00000429541.6",
"protein_id": "ENSP00000387998.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 561,
"cds_start": 839,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429541.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Asp",
"transcript": "NM_007152.5",
"protein_id": "NP_009083.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 557,
"cds_start": 827,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007152.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.*623G>A",
"hgvs_p": null,
"transcript": "NM_001256823.2",
"protein_id": "NP_001243752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256823.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.226+11010G>A",
"hgvs_p": null,
"transcript": "ENST00000528796.5",
"protein_id": "ENSP00000432720.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528796.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "n.8081G>A",
"hgvs_p": null,
"transcript": "ENST00000649622.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000649622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "n.1297G>A",
"hgvs_p": null,
"transcript": "NR_040083.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040083.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "n.1217G>A",
"hgvs_p": null,
"transcript": "NR_046381.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046381.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "n.1119G>A",
"hgvs_p": null,
"transcript": "NR_046382.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046382.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000528410.5",
"protein_id": "ENSP00000431937.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528410.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.*623G>A",
"hgvs_p": null,
"transcript": "ENST00000438262.6",
"protein_id": "ENSP00000414353.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438262.6"
}
],
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"dbsnp": "rs1848547378",
"frequency_reference_population": 6.840881e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84088e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11360037326812744,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.2421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.037,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001130520.3",
"gene_symbol": "ZNF195",
"hgnc_id": 12986,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Gly348Asp"
}
],
"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
}