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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: 5-80558767-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80558767&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80558767,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004441.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "NM_001004441.3",
"protein_id": "NP_001004441.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": "ENST00000338682.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004441.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000338682.8",
"protein_id": "ENSP00000339802.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": "NM_001004441.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338682.8"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000852599.1",
"protein_id": "ENSP00000522658.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852599.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000852600.1",
"protein_id": "ENSP00000522659.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852600.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000852601.1",
"protein_id": "ENSP00000522660.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852601.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000852602.1",
"protein_id": "ENSP00000522661.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852602.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914945.1",
"protein_id": "ENSP00000585004.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914945.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914946.1",
"protein_id": "ENSP00000585005.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914946.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914947.1",
"protein_id": "ENSP00000585006.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914947.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914948.1",
"protein_id": "ENSP00000585007.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914948.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914949.1",
"protein_id": "ENSP00000585008.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914949.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914950.1",
"protein_id": "ENSP00000585009.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914950.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914951.1",
"protein_id": "ENSP00000585010.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914951.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914952.1",
"protein_id": "ENSP00000585011.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914952.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914953.1",
"protein_id": "ENSP00000585012.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914953.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914954.1",
"protein_id": "ENSP00000585013.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914954.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000914955.1",
"protein_id": "ENSP00000585014.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914955.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000955760.1",
"protein_id": "ENSP00000625819.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955760.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "ENST00000955761.1",
"protein_id": "ENSP00000625820.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955761.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_006714599.4",
"protein_id": "XP_006714662.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714599.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_011543366.3",
"protein_id": "XP_011541668.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543366.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_011543369.2",
"protein_id": "XP_011541671.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
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"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543369.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_047417141.1",
"protein_id": "XP_047273097.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 3726,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417141.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_047417142.1",
"protein_id": "XP_047273098.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417142.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His",
"transcript": "XM_047417143.1",
"protein_id": "XP_047273099.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 514,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417143.1"
}
],
"gene_symbol": "ANKRD34B",
"gene_hgnc_id": 33736,
"dbsnp": "rs149831177",
"frequency_reference_population": 0.00002230417,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000177854,
"gnomad_genomes_af": 0.0000657151,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06866571307182312,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.0916,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.557,
"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": -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_001004441.3",
"gene_symbol": "ANKRD34B",
"hgnc_id": 33736,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Pro418His"
}
],
"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
}