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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: 2-206304914-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206304914&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206304914,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020923.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "NM_020923.3",
"protein_id": "NP_065974.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374423.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020923.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000374423.9",
"protein_id": "ENSP00000363545.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020923.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374423.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "NM_001369654.1",
"protein_id": "NP_001356583.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369654.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000649650.1",
"protein_id": "ENSP00000497308.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649650.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000920103.1",
"protein_id": "ENSP00000590162.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920103.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000951868.1",
"protein_id": "ENSP00000621927.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951868.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000951869.1",
"protein_id": "ENSP00000621928.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951869.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Gln127Arg",
"transcript": "NM_001285549.2",
"protein_id": "NP_001272478.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 2352,
"cds_start": 380,
"cds_end": null,
"cds_length": 7059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285549.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000649525.1",
"protein_id": "ENSP00000497803.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1423,
"cds_start": 386,
"cds_end": null,
"cds_length": 4273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649525.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000649441.1",
"protein_id": "ENSP00000496863.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 837,
"cds_start": 386,
"cds_end": null,
"cds_length": 2516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649441.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "ENST00000650097.1",
"protein_id": "ENSP00000497304.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 782,
"cds_start": 386,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650097.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Gln100Arg",
"transcript": "ENST00000649998.1",
"protein_id": "ENSP00000497521.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 753,
"cds_start": 299,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649998.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_005246712.6",
"protein_id": "XP_005246769.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246712.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_005246713.4",
"protein_id": "XP_005246770.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246713.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_011511532.4",
"protein_id": "XP_011509834.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511532.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_011511533.3",
"protein_id": "XP_011509835.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511533.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_011511534.3",
"protein_id": "XP_011509836.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511534.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_011511535.4",
"protein_id": "XP_011509837.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511535.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_047445281.1",
"protein_id": "XP_047301237.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445281.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "XM_047445282.1",
"protein_id": "XP_047301238.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 2354,
"cds_start": 386,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445282.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Gln127Arg",
"transcript": "XM_017004573.3",
"protein_id": "XP_016860062.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 2352,
"cds_start": 380,
"cds_end": null,
"cds_length": 7059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004573.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Gln127Arg",
"transcript": "XM_047445300.1",
"protein_id": "XP_047301256.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 2352,
"cds_start": 380,
"cds_end": null,
"cds_length": 7059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047445300.1"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 7,
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"hgvs_c": "c.386A>G",
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"transcript": "XM_017004575.3",
"protein_id": "XP_016860064.1",
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"aa_start": 129,
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"aa_length": 1991,
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"biotype": "protein_coding",
"feature": "XM_017004575.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "ZDBF2",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648361.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
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"hgvs_c": "n.*282A>G",
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"transcript": "ENST00000649285.1",
"protein_id": "ENSP00000497978.1",
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"aa_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649285.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ZDBF2",
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"hgvs_c": "n.*282A>G",
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"transcript": "ENST00000649289.1",
"protein_id": "ENSP00000497884.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649289.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "ZDBF2",
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"feature": "ENST00000648361.1"
},
{
"aa_ref": null,
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"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "ZDBF2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649285.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "n.*282A>G",
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"transcript": "ENST00000649289.1",
"protein_id": "ENSP00000497884.1",
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"cds_end": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649289.1"
}
],
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"dbsnp": "rs113954798",
"frequency_reference_population": 0.005076482,
"hom_count_reference_population": 36,
"allele_count_reference_population": 8192,
"gnomad_exomes_af": 0.00524345,
"gnomad_genomes_af": 0.003474,
"gnomad_exomes_ac": 7663,
"gnomad_genomes_ac": 529,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005974918603897095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0778,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.43,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_020923.3",
"gene_symbol": "ZDBF2",
"hgnc_id": 29313,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}