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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: 10-22318820-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=22318820&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 22318820,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_012071.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.His142His",
"transcript": "NM_012071.4",
"protein_id": "NP_036203.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 195,
"cds_start": 426,
"cds_end": null,
"cds_length": 588,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 926,
"mane_select": "ENST00000376836.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012071.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.His142His",
"transcript": "ENST00000376836.8",
"protein_id": "ENSP00000366032.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 195,
"cds_start": 426,
"cds_end": null,
"cds_length": 588,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 926,
"mane_select": "NM_012071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376836.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COMMD3-BMI1",
"gene_hgnc_id": 48326,
"hgvs_c": "c.351-139T>C",
"hgvs_p": null,
"transcript": "ENST00000602390.5",
"protein_id": "ENSP00000473391.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.804T>C",
"hgvs_p": null,
"transcript": "ENST00000602574.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000602574.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.His142His",
"transcript": "ENST00000860458.1",
"protein_id": "ENSP00000530517.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 195,
"cds_start": 426,
"cds_end": null,
"cds_length": 588,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860458.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.417T>C",
"hgvs_p": "p.His139His",
"transcript": "ENST00000860460.1",
"protein_id": "ENSP00000530519.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 192,
"cds_start": 417,
"cds_end": null,
"cds_length": 579,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860460.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.372T>C",
"hgvs_p": "p.His124His",
"transcript": "ENST00000964928.1",
"protein_id": "ENSP00000634987.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 177,
"cds_start": 372,
"cds_end": null,
"cds_length": 534,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964928.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.327T>C",
"hgvs_p": "p.His109His",
"transcript": "ENST00000456711.5",
"protein_id": "ENSP00000394580.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 162,
"cds_start": 327,
"cds_end": null,
"cds_length": 489,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456711.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.285T>C",
"hgvs_p": "p.His95His",
"transcript": "ENST00000448361.5",
"protein_id": "ENSP00000391237.1",
"transcript_support_level": 3,
"aa_start": 95,
"aa_end": null,
"aa_length": 148,
"cds_start": 285,
"cds_end": null,
"cds_length": 447,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448361.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.His37His",
"transcript": "ENST00000471350.1",
"protein_id": "ENSP00000473624.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 74,
"cds_start": 111,
"cds_end": null,
"cds_length": 225,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COMMD3-BMI1",
"gene_hgnc_id": 48326,
"hgvs_c": "c.351-139T>C",
"hgvs_p": null,
"transcript": "NM_001204062.2",
"protein_id": "NP_001190991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204062.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.348-139T>C",
"hgvs_p": null,
"transcript": "ENST00000444869.5",
"protein_id": "ENSP00000408982.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.411+107T>C",
"hgvs_p": null,
"transcript": "ENST00000860459.1",
"protein_id": "ENSP00000530518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COMMD3-BMI1",
"gene_hgnc_id": 48326,
"hgvs_c": "c.350+514T>C",
"hgvs_p": null,
"transcript": "ENST00000475460.6",
"protein_id": "ENSP00000473382.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475460.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "c.411+107T>C",
"hgvs_p": null,
"transcript": "ENST00000860461.1",
"protein_id": "ENSP00000530520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COMMD3-BMI1",
"gene_hgnc_id": 48326,
"hgvs_c": "c.236+825T>C",
"hgvs_p": null,
"transcript": "ENST00000489125.2",
"protein_id": "ENSP00000473495.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3-BMI1",
"gene_hgnc_id": 48326,
"hgvs_c": "n.412T>C",
"hgvs_p": null,
"transcript": "ENST00000463409.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463409.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.841T>C",
"hgvs_p": null,
"transcript": "ENST00000463688.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463688.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.883T>C",
"hgvs_p": null,
"transcript": "ENST00000468179.6",
"protein_id": null,
"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": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468179.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.520T>C",
"hgvs_p": null,
"transcript": "ENST00000468469.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468469.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.976T>C",
"hgvs_p": null,
"transcript": "ENST00000479958.6",
"protein_id": null,
"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": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479958.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD3",
"gene_hgnc_id": 23332,
"hgvs_c": "n.252T>C",
"hgvs_p": null,
"transcript": "ENST00000483684.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
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{
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],
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{
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{
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],
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],
"gene_symbol": "COMMD3",
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"dbsnp": "rs192630710",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2849999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.587,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4,BP7",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012071.4",
"gene_symbol": "COMMD3",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.His142His"
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001204062.2",
"gene_symbol": "COMMD3-BMI1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.351-139T>C",
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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
}