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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: 4-141233766-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=141233766&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 141233766,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014487.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "NM_014487.6",
"protein_id": "NP_055302.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262990.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014487.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000262990.9",
"protein_id": "ENSP00000262990.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014487.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262990.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955956.1",
"protein_id": "ENSP00000626015.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955956.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955957.1",
"protein_id": "ENSP00000626016.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955957.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955958.1",
"protein_id": "ENSP00000626017.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955958.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955959.1",
"protein_id": "ENSP00000626018.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955959.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955962.1",
"protein_id": "ENSP00000626021.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955962.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955964.1",
"protein_id": "ENSP00000626023.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955964.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955967.1",
"protein_id": "ENSP00000626026.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955967.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000955972.1",
"protein_id": "ENSP00000626031.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955972.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Ala246Gly",
"transcript": "ENST00000955960.1",
"protein_id": "ENSP00000626019.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 319,
"cds_start": 737,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955960.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Ala246Gly",
"transcript": "ENST00000955961.1",
"protein_id": "ENSP00000626020.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 319,
"cds_start": 737,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955961.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Ala246Gly",
"transcript": "ENST00000955965.1",
"protein_id": "ENSP00000626024.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 319,
"cds_start": 737,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955965.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Ala246Gly",
"transcript": "ENST00000955966.1",
"protein_id": "ENSP00000626025.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 319,
"cds_start": 737,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955966.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Ala246Gly",
"transcript": "ENST00000955971.1",
"protein_id": "ENSP00000626030.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 319,
"cds_start": 737,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955971.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.653C>G",
"hgvs_p": "p.Ala218Gly",
"transcript": "ENST00000955970.1",
"protein_id": "ENSP00000626029.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 291,
"cds_start": 653,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955970.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000955963.1",
"protein_id": "ENSP00000626022.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 285,
"cds_start": 635,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955963.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000955969.1",
"protein_id": "ENSP00000626028.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 285,
"cds_start": 635,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955969.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.560C>G",
"hgvs_p": "p.Ala187Gly",
"transcript": "NM_001292002.2",
"protein_id": "NP_001278931.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 260,
"cds_start": 560,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292002.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.542C>G",
"hgvs_p": "p.Ala181Gly",
"transcript": "ENST00000909781.1",
"protein_id": "ENSP00000579840.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 254,
"cds_start": 542,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909781.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.461C>G",
"hgvs_p": "p.Ala154Gly",
"transcript": "ENST00000955968.1",
"protein_id": "ENSP00000626027.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 227,
"cds_start": 461,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955968.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_017008033.2",
"protein_id": "XP_016863522.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008033.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_024453986.2",
"protein_id": "XP_024309754.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453986.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_047450073.1",
"protein_id": "XP_047306029.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 320,
"cds_start": 740,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "n.*435C>G",
"hgvs_p": null,
"transcript": "ENST00000506302.1",
"protein_id": "ENSP00000427201.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"hgvs_c": "n.*435C>G",
"hgvs_p": null,
"transcript": "ENST00000506302.1",
"protein_id": "ENSP00000427201.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506302.1"
}
],
"gene_symbol": "ZNF330",
"gene_hgnc_id": 15462,
"dbsnp": "rs770158192",
"frequency_reference_population": 0.000002052826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205283,
"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": 0.3159279227256775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1632,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.3,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014487.6",
"gene_symbol": "ZNF330",
"hgnc_id": 15462,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly"
}
],
"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
}