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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: 19-9338574-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9338574&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9338574,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001202406.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "NM_032497.3",
"protein_id": "NP_115886.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": "ENST00000603380.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032497.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000603380.6",
"protein_id": "ENSP00000474760.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": "NM_032497.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603380.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Tyr37His",
"transcript": "ENST00000586255.5",
"protein_id": "ENSP00000465787.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 149,
"cds_start": 109,
"cds_end": null,
"cds_length": 450,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586255.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Tyr37His",
"transcript": "ENST00000592896.5",
"protein_id": "ENSP00000466496.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 112,
"cds_start": 109,
"cds_end": null,
"cds_length": 339,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592896.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000585352.5",
"protein_id": "ENSP00000467048.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 84,
"cds_start": 25,
"cds_end": null,
"cds_length": 255,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-399T>C",
"hgvs_p": null,
"transcript": "ENST00000541595.6",
"protein_id": "ENSP00000445323.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541595.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His",
"transcript": "NM_001202406.1",
"protein_id": "NP_001189335.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 602,
"cds_start": 217,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202406.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His",
"transcript": "ENST00000587557.5",
"protein_id": "ENSP00000468153.2",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 602,
"cds_start": 217,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587557.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000393883.6",
"protein_id": "ENSP00000377461.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393883.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861660.1",
"protein_id": "ENSP00000531719.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861660.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861661.1",
"protein_id": "ENSP00000531720.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861661.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861662.1",
"protein_id": "ENSP00000531721.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861662.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861663.1",
"protein_id": "ENSP00000531722.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861663.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861664.1",
"protein_id": "ENSP00000531723.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861664.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861665.1",
"protein_id": "ENSP00000531724.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861665.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861666.1",
"protein_id": "ENSP00000531725.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861666.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861667.1",
"protein_id": "ENSP00000531726.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861667.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861668.1",
"protein_id": "ENSP00000531727.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861668.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861669.1",
"protein_id": "ENSP00000531728.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861669.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861670.1",
"protein_id": "ENSP00000531729.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861670.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861671.1",
"protein_id": "ENSP00000531730.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861671.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.25T>C",
"hgvs_p": "p.Tyr9His",
"transcript": "ENST00000861672.1",
"protein_id": "ENSP00000531731.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 538,
"cds_start": 25,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 853,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605093.5"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
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"hgvs_c": "n.144+8385T>C",
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"transcript": "ENST00000605471.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605471.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.136+13794T>C",
"hgvs_p": null,
"transcript": "ENST00000605775.5",
"protein_id": "ENSP00000474354.1",
"transcript_support_level": 4,
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605775.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283108",
"gene_hgnc_id": null,
"hgvs_c": "n.864-13140A>G",
"hgvs_p": null,
"transcript": "ENST00000773254.1",
"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": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000773254.1"
}
],
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"dbsnp": null,
"frequency_reference_population": 0.0000020534724,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205347,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08461496233940125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.2055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.219,
"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_001202406.1",
"gene_symbol": "ZNF559",
"hgnc_id": 28197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001384659.1",
"gene_symbol": "ZNF559-ZNF177",
"hgnc_id": 42964,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-467T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000773254.1",
"gene_symbol": "ENSG00000283108",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.864-13140A>G",
"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
}