← Back to variant description
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: 3-129252904-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129252904&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129252904,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016128.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "NM_016128.4",
"protein_id": "NP_057212.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 874,
"cds_start": 272,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314797.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016128.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000314797.10",
"protein_id": "ENSP00000325002.6",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 874,
"cds_start": 272,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016128.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314797.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961557.1",
"protein_id": "ENSP00000631616.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 915,
"cds_start": 272,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961557.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000865885.1",
"protein_id": "ENSP00000535944.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 909,
"cds_start": 272,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865885.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000865883.1",
"protein_id": "ENSP00000535942.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 894,
"cds_start": 272,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865883.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961561.1",
"protein_id": "ENSP00000631620.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 889,
"cds_start": 272,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961561.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000911369.1",
"protein_id": "ENSP00000581428.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 882,
"cds_start": 272,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911369.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000911370.1",
"protein_id": "ENSP00000581429.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 877,
"cds_start": 272,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911370.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961560.1",
"protein_id": "ENSP00000631619.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 871,
"cds_start": 272,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961560.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961559.1",
"protein_id": "ENSP00000631618.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 864,
"cds_start": 272,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961559.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000865881.1",
"protein_id": "ENSP00000535940.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 861,
"cds_start": 272,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865881.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961562.1",
"protein_id": "ENSP00000631621.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 860,
"cds_start": 272,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961562.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000865882.1",
"protein_id": "ENSP00000535941.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 851,
"cds_start": 272,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865882.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000911371.1",
"protein_id": "ENSP00000581430.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 848,
"cds_start": 272,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911371.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961555.1",
"protein_id": "ENSP00000631614.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 843,
"cds_start": 272,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961555.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000865880.1",
"protein_id": "ENSP00000535939.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 842,
"cds_start": 272,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865880.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961556.1",
"protein_id": "ENSP00000631615.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 841,
"cds_start": 272,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961556.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000911368.1",
"protein_id": "ENSP00000581427.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 832,
"cds_start": 272,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911368.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961558.1",
"protein_id": "ENSP00000631617.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 829,
"cds_start": 272,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961558.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000961563.1",
"protein_id": "ENSP00000631622.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 809,
"cds_start": 272,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "c.244-8C>T",
"hgvs_p": null,
"transcript": "ENST00000865884.1",
"protein_id": "ENSP00000535943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": null,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865884.1"
},
{
"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,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "n.*282C>T",
"hgvs_p": null,
"transcript": "ENST00000504350.1",
"protein_id": "ENSP00000426457.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504350.1"
},
{
"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": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "n.536C>T",
"hgvs_p": null,
"transcript": "ENST00000513965.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513965.5"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "n.531C>T",
"hgvs_p": null,
"transcript": "ENST00000515725.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515725.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"hgvs_c": "n.*282C>T",
"hgvs_p": null,
"transcript": "ENST00000504350.1",
"protein_id": "ENSP00000426457.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504350.1"
}
],
"gene_symbol": "COPG1",
"gene_hgnc_id": 2236,
"dbsnp": "rs375731470",
"frequency_reference_population": 0.0000024782348,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8155125379562378,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5892,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.607,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016128.4",
"gene_symbol": "COPG1",
"hgnc_id": 2236,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile"
}
],
"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
}