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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: 19-43997352-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43997352&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43997352,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001260488.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "NM_198089.3",
"protein_id": "NP_932355.3",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270014.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198089.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000270014.7",
"protein_id": "ENSP00000270014.1",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198089.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270014.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000590615.5",
"protein_id": "ENSP00000465691.1",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590615.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "NM_001260488.2",
"protein_id": "NP_001247417.2",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260488.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "ENST00000407951.6",
"protein_id": "ENSP00000385163.2",
"transcript_support_level": 2,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407951.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "NM_001260486.2",
"protein_id": "NP_001247415.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260486.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "NM_001260487.2",
"protein_id": "NP_001247416.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260487.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "NM_003445.4",
"protein_id": "NP_003436.4",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003445.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000611002.4",
"protein_id": "ENSP00000481677.1",
"transcript_support_level": 4,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611002.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000851203.1",
"protein_id": "ENSP00000521262.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851203.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000851204.1",
"protein_id": "ENSP00000521263.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851204.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000851205.1",
"protein_id": "ENSP00000521264.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851205.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000932768.1",
"protein_id": "ENSP00000602827.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932768.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000968381.1",
"protein_id": "ENSP00000638440.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968381.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1492C>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "ENST00000968382.1",
"protein_id": "ENSP00000638441.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 537,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968382.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "XM_011527278.4",
"protein_id": "XP_011525580.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527278.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "XM_024451694.2",
"protein_id": "XP_024307462.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451694.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "XM_047439370.1",
"protein_id": "XP_047295326.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439370.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "XM_047439372.1",
"protein_id": "XP_047295328.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439372.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "XM_047439373.1",
"protein_id": "XP_047295329.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 549,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439373.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "XM_047439371.1",
"protein_id": "XP_047295327.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF230-DT",
"gene_hgnc_id": 55316,
"hgvs_c": "n.2094G>C",
"hgvs_p": null,
"transcript": "ENST00000586860.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000586860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "ZNF230-DT",
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"hgvs_c": "n.1723G>C",
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"transcript": "ENST00000589021.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ZNF230-DT",
"gene_hgnc_id": 55316,
"hgvs_c": "n.2402G>C",
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"transcript": "ENST00000653813.1",
"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": "pseudogene",
"feature": "ENST00000653813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZNF230-DT",
"gene_hgnc_id": 55316,
"hgvs_c": "n.1760G>C",
"hgvs_p": null,
"transcript": "NR_110727.1",
"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": "pseudogene",
"feature": "NR_110727.1"
}
],
"gene_symbol": "ZNF155",
"gene_hgnc_id": 12940,
"dbsnp": "rs752705382",
"frequency_reference_population": 0.000040284744,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000403686,
"gnomad_genomes_af": 0.0000394784,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.058274418115615845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.1053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.388,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001260488.2",
"gene_symbol": "ZNF155",
"hgnc_id": 12940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000586860.1",
"gene_symbol": "ZNF230-DT",
"hgnc_id": 55316,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2094G>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
}