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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: 7-100091692-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100091692&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100091692,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006833.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "NM_006833.5",
"protein_id": "NP_006824.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 327,
"cds_start": 887,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303904.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006833.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000303904.8",
"protein_id": "ENSP00000304102.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 327,
"cds_start": 887,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006833.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303904.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000908041.1",
"protein_id": "ENSP00000578100.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 334,
"cds_start": 908,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908041.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Ser",
"transcript": "ENST00000920061.1",
"protein_id": "ENSP00000590120.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 329,
"cds_start": 893,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920061.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Thr297Ser",
"transcript": "ENST00000920068.1",
"protein_id": "ENSP00000590127.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 328,
"cds_start": 890,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920068.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000908037.1",
"protein_id": "ENSP00000578096.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 327,
"cds_start": 887,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908037.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000908038.1",
"protein_id": "ENSP00000578097.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 327,
"cds_start": 887,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908038.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000418625.5",
"protein_id": "ENSP00000400617.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 326,
"cds_start": 884,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418625.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000908043.1",
"protein_id": "ENSP00000578102.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 326,
"cds_start": 884,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908043.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Thr294Ser",
"transcript": "ENST00000920065.1",
"protein_id": "ENSP00000590124.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 325,
"cds_start": 881,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920065.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Thr290Ser",
"transcript": "ENST00000908040.1",
"protein_id": "ENSP00000578099.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 321,
"cds_start": 869,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908040.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Thr280Ser",
"transcript": "ENST00000908039.1",
"protein_id": "ENSP00000578098.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 311,
"cds_start": 839,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908039.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Thr280Ser",
"transcript": "ENST00000955918.1",
"protein_id": "ENSP00000625977.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 311,
"cds_start": 839,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955918.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000920063.1",
"protein_id": "ENSP00000590122.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 310,
"cds_start": 836,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920063.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000920064.1",
"protein_id": "ENSP00000590123.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 310,
"cds_start": 836,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920064.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Thr275Ser",
"transcript": "ENST00000920062.1",
"protein_id": "ENSP00000590121.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 306,
"cds_start": 824,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920062.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Thr272Ser",
"transcript": "ENST00000920066.1",
"protein_id": "ENSP00000590125.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 303,
"cds_start": 815,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920066.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "ENST00000908045.1",
"protein_id": "ENSP00000578104.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 295,
"cds_start": 791,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908045.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.761C>G",
"hgvs_p": "p.Thr254Ser",
"transcript": "ENST00000908044.1",
"protein_id": "ENSP00000578103.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 285,
"cds_start": 761,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908044.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Thr252Ser",
"transcript": "ENST00000908042.1",
"protein_id": "ENSP00000578101.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 283,
"cds_start": 755,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908042.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Thr237Ser",
"transcript": "ENST00000920067.1",
"protein_id": "ENSP00000590126.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 268,
"cds_start": 710,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "n.*129C>G",
"hgvs_p": null,
"transcript": "ENST00000426712.1",
"protein_id": "ENSP00000413702.1",
"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": "ENST00000426712.1"
},
{
"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": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "n.694C>G",
"hgvs_p": null,
"transcript": "ENST00000474823.5",
"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": "ENST00000474823.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "n.*129C>G",
"hgvs_p": null,
"transcript": "ENST00000426712.1",
"protein_id": "ENSP00000413702.1",
"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": "ENST00000426712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"hgvs_c": "n.*244C>G",
"hgvs_p": null,
"transcript": "ENST00000483891.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483891.1"
}
],
"gene_symbol": "COPS6",
"gene_hgnc_id": 21749,
"dbsnp": null,
"frequency_reference_population": 0.0000020521325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205213,
"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": 0.8243322372436523,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.337,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6387,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.561,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_006833.5",
"gene_symbol": "COPS6",
"hgnc_id": 21749,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser"
}
],
"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
}