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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: 20-32704046-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32704046&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32704046,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_053041.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "NM_053041.3",
"protein_id": "NP_444269.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 200,
"cds_start": 503,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278980.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053041.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "ENST00000278980.11",
"protein_id": "ENSP00000278980.6",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 200,
"cds_start": 503,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053041.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278980.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "ENST00000646357.1",
"protein_id": "ENSP00000493768.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 272,
"cds_start": 503,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646357.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Asn193Ser",
"transcript": "ENST00000855718.1",
"protein_id": "ENSP00000525777.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 225,
"cds_start": 578,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855718.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.575A>G",
"hgvs_p": "p.Asn192Ser",
"transcript": "ENST00000941360.1",
"protein_id": "ENSP00000611419.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 224,
"cds_start": 575,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941360.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "ENST00000642484.1",
"protein_id": "ENSP00000496538.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 211,
"cds_start": 503,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642484.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Asn177Ser",
"transcript": "ENST00000855717.1",
"protein_id": "ENSP00000525776.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 209,
"cds_start": 530,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855717.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "NM_001099339.2",
"protein_id": "NP_001092809.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 199,
"cds_start": 500,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099339.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "ENST00000446419.6",
"protein_id": "ENSP00000395339.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 199,
"cds_start": 500,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446419.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "ENST00000941361.1",
"protein_id": "ENSP00000611420.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 199,
"cds_start": 500,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941361.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asn165Ser",
"transcript": "ENST00000934209.1",
"protein_id": "ENSP00000604268.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 197,
"cds_start": 494,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934209.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asn150Ser",
"transcript": "ENST00000855715.1",
"protein_id": "ENSP00000525774.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 182,
"cds_start": 449,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855715.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"transcript": "ENST00000855716.1",
"protein_id": "ENSP00000525775.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 153,
"cds_start": 362,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855716.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asn120Ser",
"transcript": "ENST00000855714.1",
"protein_id": "ENSP00000525773.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 152,
"cds_start": 359,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855714.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asn103Ser",
"transcript": "ENST00000855719.1",
"protein_id": "ENSP00000525778.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 135,
"cds_start": 308,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855719.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "XM_005260299.5",
"protein_id": "XP_005260356.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 242,
"cds_start": 503,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260299.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "XM_005260300.5",
"protein_id": "XP_005260357.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 241,
"cds_start": 500,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260300.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "XM_011528604.4",
"protein_id": "XP_011526906.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 190,
"cds_start": 503,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528604.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "XM_017027685.3",
"protein_id": "XP_016883174.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 189,
"cds_start": 500,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027685.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"transcript": "XM_017027686.3",
"protein_id": "XP_016883175.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 153,
"cds_start": 362,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027686.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asn120Ser",
"transcript": "XM_047439932.1",
"protein_id": "XP_047295888.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 152,
"cds_start": 359,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.478-80A>G",
"hgvs_p": null,
"transcript": "ENST00000855720.1",
"protein_id": "ENSP00000525779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.477+394A>G",
"hgvs_p": null,
"transcript": "ENST00000855721.1",
"protein_id": "ENSP00000525780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COMMD7",
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"hgvs_c": "n.*416A>G",
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"transcript": "ENST00000610160.1",
"protein_id": "ENSP00000476617.1",
"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": "ENST00000610160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "n.503A>G",
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"transcript": "ENST00000642630.1",
"protein_id": "ENSP00000494986.1",
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"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": "ENST00000642630.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "n.500A>G",
"hgvs_p": null,
"transcript": "ENST00000645058.1",
"protein_id": "ENSP00000494955.1",
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"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": "ENST00000645058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
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"hgvs_c": "n.*416A>G",
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"transcript": "ENST00000610160.1",
"protein_id": "ENSP00000476617.1",
"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": "ENST00000610160.1"
}
],
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"dbsnp": null,
"frequency_reference_population": 0.0000020573111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205731,
"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": 0.11347121000289917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.931,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_053041.3",
"gene_symbol": "COMMD7",
"hgnc_id": 16223,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646357.1",
"gene_symbol": "ENSG00000285382",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser"
}
],
"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
}