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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: 20-35871703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35871703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35871703,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016436.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "NM_016436.5",
"protein_id": "NP_057520.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374012.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016436.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000374012.8",
"protein_id": "ENSP00000363124.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016436.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374012.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000374000.8",
"protein_id": "ENSP00000363112.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 548,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374000.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "n.1162C>T",
"hgvs_p": null,
"transcript": "ENST00000481202.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481202.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000937490.1",
"protein_id": "ENSP00000607549.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937490.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000937489.1",
"protein_id": "ENSP00000607548.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937489.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000937491.1",
"protein_id": "ENSP00000607550.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937491.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.His331Tyr",
"transcript": "ENST00000937487.1",
"protein_id": "ENSP00000607546.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 957,
"cds_start": 991,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937487.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.His326Tyr",
"transcript": "ENST00000937486.1",
"protein_id": "ENSP00000607545.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 952,
"cds_start": 976,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937486.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000937485.1",
"protein_id": "ENSP00000607544.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 919,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937485.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000942256.1",
"protein_id": "ENSP00000612315.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 919,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942256.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.His230Tyr",
"transcript": "ENST00000937488.1",
"protein_id": "ENSP00000607547.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 856,
"cds_start": 688,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937488.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "ENST00000339089.10",
"protein_id": "ENSP00000341900.6",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 542,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339089.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "XM_047440180.1",
"protein_id": "XP_047296136.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440180.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "XM_047440181.1",
"protein_id": "XP_047296137.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440181.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"transcript": "XM_047440182.1",
"protein_id": "XP_047296138.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440182.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.His331Tyr",
"transcript": "XM_017027868.3",
"protein_id": "XP_016883357.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 957,
"cds_start": 991,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027868.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.His270Tyr",
"transcript": "XM_047440183.1",
"protein_id": "XP_047296139.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 896,
"cds_start": 808,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.-54C>T",
"hgvs_p": null,
"transcript": "XM_005260421.4",
"protein_id": "XP_005260478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260421.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.-54C>T",
"hgvs_p": null,
"transcript": "XM_011528844.3",
"protein_id": "XP_011527146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528844.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.-54C>T",
"hgvs_p": null,
"transcript": "XM_047440184.1",
"protein_id": "XP_047296140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.-54C>T",
"hgvs_p": null,
"transcript": "XM_047440185.1",
"protein_id": "XP_047296141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440185.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "c.-54C>T",
"hgvs_p": null,
"transcript": "XM_047440186.1",
"protein_id": "XP_047296142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440186.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "n.256C>T",
"hgvs_p": null,
"transcript": "ENST00000485604.1",
"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": "ENST00000485604.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"hgvs_c": "n.286C>T",
"hgvs_p": null,
"transcript": "ENST00000495338.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000495338.5"
}
],
"gene_symbol": "PHF20",
"gene_hgnc_id": 16098,
"dbsnp": "rs151316913",
"frequency_reference_population": 0.000075599375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000786847,
"gnomad_genomes_af": 0.00004598,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015044063329696655,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.102,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016436.5",
"gene_symbol": "PHF20",
"hgnc_id": 16098,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr"
}
],
"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
}