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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: 19-9653094-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9653094&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9653094,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130031.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg",
"transcript": "NM_001130031.2",
"protein_id": "NP_001123503.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 426,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 12639,
"mane_select": "ENST00000453372.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130031.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg",
"transcript": "ENST00000453372.7",
"protein_id": "ENSP00000410734.1",
"transcript_support_level": 3,
"aa_start": 379,
"aa_end": null,
"aa_length": 426,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 12639,
"mane_select": "NM_001130031.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453372.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg",
"transcript": "NM_001130032.2",
"protein_id": "NP_001123504.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 426,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 12586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130032.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg",
"transcript": "ENST00000901088.1",
"protein_id": "ENSP00000571147.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 426,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901088.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg",
"transcript": "ENST00000933425.1",
"protein_id": "ENSP00000603484.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 426,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933425.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "NM_001300885.2",
"protein_id": "NP_001287814.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300885.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "ENST00000590155.5",
"protein_id": "ENSP00000464716.1",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590155.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "ENST00000901086.1",
"protein_id": "ENSP00000571145.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901086.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "ENST00000901089.1",
"protein_id": "ENSP00000571148.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901089.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "ENST00000901090.1",
"protein_id": "ENSP00000571149.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901090.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Lys307Arg",
"transcript": "NM_017656.4",
"protein_id": "NP_060126.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 354,
"cds_start": 920,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 12423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017656.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Lys307Arg",
"transcript": "ENST00000293648.8",
"protein_id": "ENSP00000293648.3",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 354,
"cds_start": 920,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 12380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293648.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Lys301Arg",
"transcript": "ENST00000901087.1",
"protein_id": "ENSP00000571146.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 348,
"cds_start": 902,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901087.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Lys300Arg",
"transcript": "ENST00000901091.1",
"protein_id": "ENSP00000571150.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 347,
"cds_start": 899,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901091.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "XM_017026898.3",
"protein_id": "XP_016882387.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026898.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Lys378Arg",
"transcript": "XM_047438994.1",
"protein_id": "XP_047294950.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 425,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438994.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Lys341Arg",
"transcript": "XM_047438995.1",
"protein_id": "XP_047294951.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 388,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438995.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Lys306Arg",
"transcript": "XM_047438996.1",
"protein_id": "XP_047294952.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 353,
"cds_start": 917,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438996.1"
},
{
"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": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "n.*874A>G",
"hgvs_p": null,
"transcript": "ENST00000585688.5",
"protein_id": "ENSP00000466728.1",
"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": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585688.5"
},
{
"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": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.1424T>C",
"hgvs_p": null,
"transcript": "ENST00000686350.1",
"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": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF562",
"gene_hgnc_id": 25950,
"hgvs_c": "n.*874A>G",
"hgvs_p": null,
"transcript": "ENST00000585688.5",
"protein_id": "ENSP00000466728.1",
"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": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585688.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.320-19708T>C",
"hgvs_p": null,
"transcript": "ENST00000686891.1",
"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": 460,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.497-528T>C",
"hgvs_p": null,
"transcript": "ENST00000724285.1",
"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": 844,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.537-528T>C",
"hgvs_p": null,
"transcript": "ENST00000724286.1",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.331-528T>C",
"hgvs_p": null,
"transcript": "ENST00000724287.1",
"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": 429,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF561-AS1",
"gene_hgnc_id": 27613,
"hgvs_c": "n.428-528T>C",
"hgvs_p": null,
"transcript": "ENST00000724288.1",
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724288.1"
}
],
"gene_symbol": "ZNF562",
"gene_hgnc_id": 25950,
"dbsnp": "rs1342608913",
"frequency_reference_population": 0.000017830813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000178308,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14254748821258545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.2021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.449,
"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_001130031.2",
"gene_symbol": "ZNF562",
"hgnc_id": 25950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Lys379Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000686350.1",
"gene_symbol": "ZNF561-AS1",
"hgnc_id": 27613,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1424T>C",
"hgvs_p": null
}
],
"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
}