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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: 15-67359848-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67359848&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67359848,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000335894.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Gly239Ala",
"transcript": "NM_001031715.3",
"protein_id": "NP_001026885.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1027,
"cds_start": 716,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "ENST00000335894.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Gly239Ala",
"transcript": "ENST00000335894.9",
"protein_id": "ENSP00000336861.4",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 1027,
"cds_start": 716,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "NM_001031715.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "ENST00000629425.2",
"protein_id": "ENSP00000486970.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 305,
"cds_start": 197,
"cds_end": null,
"cds_length": 918,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "NM_001322475.2",
"protein_id": "NP_001309404.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 763,
"cds_start": 197,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "NM_001322470.2",
"protein_id": "NP_001309399.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 722,
"cds_start": 197,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001284347.2",
"protein_id": "NP_001271276.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "NM_001322474.2",
"protein_id": "NP_001309403.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 658,
"cds_start": 197,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "NM_001322473.2",
"protein_id": "NP_001309402.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 655,
"cds_start": 197,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-135G>C",
"hgvs_p": null,
"transcript": "NM_001284348.2",
"protein_id": "NP_001271277.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001322471.2",
"protein_id": "NP_001309400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001322472.2",
"protein_id": "NP_001309401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "NM_001284349.2",
"protein_id": "NP_001271278.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 305,
"cds_start": 197,
"cds_end": null,
"cds_length": 918,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*199G>C",
"hgvs_p": null,
"transcript": "ENST00000514049.5",
"protein_id": "ENSP00000421223.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.79G>C",
"hgvs_p": null,
"transcript": "ENST00000559172.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*199G>C",
"hgvs_p": null,
"transcript": "ENST00000559568.5",
"protein_id": "ENSP00000453749.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*31G>C",
"hgvs_p": null,
"transcript": "ENST00000561339.1",
"protein_id": "ENSP00000454387.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.493G>C",
"hgvs_p": null,
"transcript": "NR_147832.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001284347.2",
"protein_id": "NP_001271276.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-135G>C",
"hgvs_p": null,
"transcript": "NM_001284348.2",
"protein_id": "NP_001271277.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001322471.2",
"protein_id": "NP_001309400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.-41G>C",
"hgvs_p": null,
"transcript": "NM_001322472.2",
"protein_id": "NP_001309401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*199G>C",
"hgvs_p": null,
"transcript": "ENST00000514049.5",
"protein_id": "ENSP00000421223.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*199G>C",
"hgvs_p": null,
"transcript": "ENST00000559568.5",
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"splice_region_variant"
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"intron_variant"
],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}