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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: 14-88611746-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88611746&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88611746,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_024824.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Glu736Lys",
"transcript": "NM_024824.5",
"protein_id": "NP_079100.2",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 736,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251038.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024824.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Glu736Lys",
"transcript": "ENST00000251038.10",
"protein_id": "ENSP00000251038.5",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 736,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024824.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251038.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Glu650Lys",
"transcript": "ENST00000556000.5",
"protein_id": "ENSP00000451054.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 650,
"cds_start": 1948,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556000.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Glu579Lys",
"transcript": "ENST00000302216.12",
"protein_id": "ENSP00000307025.8",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 579,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302216.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Glu571Lys",
"transcript": "ENST00000336693.8",
"protein_id": "ENSP00000338002.4",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 571,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336693.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "ENST00000318308.10",
"protein_id": "ENSP00000327176.6",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 306,
"cds_start": 916,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318308.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Glu735Lys",
"transcript": "NM_001160103.2",
"protein_id": "NP_001153575.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 735,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160103.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Glu731Lys",
"transcript": "NM_001326310.2",
"protein_id": "NP_001313239.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326310.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Glu731Lys",
"transcript": "ENST00000888720.1",
"protein_id": "ENSP00000558779.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888720.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Glu730Lys",
"transcript": "NM_001160104.2",
"protein_id": "NP_001153576.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 730,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160104.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Glu730Lys",
"transcript": "ENST00000555755.5",
"protein_id": "ENSP00000452475.1",
"transcript_support_level": 2,
"aa_start": 730,
"aa_end": null,
"aa_length": 730,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555755.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "ENST00000888717.1",
"protein_id": "ENSP00000558776.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 725,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888717.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Glu724Lys",
"transcript": "ENST00000888729.1",
"protein_id": "ENSP00000558788.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 724,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888729.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Glu720Lys",
"transcript": "ENST00000888723.1",
"protein_id": "ENSP00000558782.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 720,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888723.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Glu719Lys",
"transcript": "ENST00000971949.1",
"protein_id": "ENSP00000642008.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 719,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971949.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2134G>A",
"hgvs_p": "p.Glu712Lys",
"transcript": "ENST00000971947.1",
"protein_id": "ENSP00000642006.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 712,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971947.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2131G>A",
"hgvs_p": "p.Glu711Lys",
"transcript": "NM_001326307.2",
"protein_id": "NP_001313236.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 711,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326307.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2131G>A",
"hgvs_p": "p.Glu711Lys",
"transcript": "ENST00000393514.9",
"protein_id": "ENSP00000377150.5",
"transcript_support_level": 5,
"aa_start": 711,
"aa_end": null,
"aa_length": 711,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393514.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Glu710Lys",
"transcript": "NM_001326296.2",
"protein_id": "NP_001313225.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 710,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326296.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Glu710Lys",
"transcript": "ENST00000888716.1",
"protein_id": "ENSP00000558775.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 710,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888716.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Glu706Lys",
"transcript": "NM_001326312.2",
"protein_id": "NP_001313241.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 706,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326312.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
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"protein_id": "ENSP00000497757.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "n.2143G>A",
"hgvs_p": null,
"transcript": "NR_136936.2",
"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_136936.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"transcript": "ENST00000649731.1",
"protein_id": "ENSP00000497757.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649731.1"
}
],
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"dbsnp": "rs144843433",
"frequency_reference_population": 0.000059485377,
"hom_count_reference_population": 0,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000595203,
"gnomad_genomes_af": 0.0000591498,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18864822387695312,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.26600000262260437,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.2961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.631,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0761812951253692,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024824.5",
"gene_symbol": "ZC3H14",
"hgnc_id": 20509,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Glu736Lys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}