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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: 6-63684165-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=63684165&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF3",
"hgnc_id": 8921,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_015153.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 13962,
"alphamissense_prediction": null,
"alphamissense_score": 0.1238,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006666600704193115,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18797,
"cdna_start": 817,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370348.2",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262043.8",
"protein_coding": true,
"protein_id": "NP_001357277.1",
"strand": true,
"transcript": "NM_001370348.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18797,
"cdna_start": 817,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262043.8",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370348.2",
"protein_coding": true,
"protein_id": "ENSP00000262043.4",
"strand": true,
"transcript": "ENST00000262043.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": 469,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393387.5",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377048.1",
"strand": true,
"transcript": "ENST00000393387.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 736,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 810,
"cds_end": null,
"cds_length": 2211,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000509330.5",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422841.1",
"strand": true,
"transcript": "ENST00000509330.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1071,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": null,
"cds_end": null,
"cds_length": 3217,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506783.5",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.-116A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424694.1",
"strand": true,
"transcript": "ENST00000506783.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7124,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000509876.5",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "n.*387A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424994.1",
"strand": true,
"transcript": "ENST00000509876.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7124,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000509876.5",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "n.*387A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424994.1",
"strand": true,
"transcript": "ENST00000509876.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18449,
"cdna_start": 469,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_015153.4",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055968.1",
"strand": true,
"transcript": "NM_015153.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8103,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903919.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573978.1",
"strand": true,
"transcript": "ENST00000903919.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7326,
"cdna_start": 903,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935699.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605758.1",
"strand": true,
"transcript": "ENST00000935699.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7002,
"cdna_start": 582,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935701.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605760.1",
"strand": true,
"transcript": "ENST00000935701.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 6120,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935702.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605761.1",
"strand": true,
"transcript": "ENST00000935702.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1985,
"aa_ref": "K",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7045,
"cdna_start": 624,
"cds_end": null,
"cds_length": 5958,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000935700.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605759.1",
"strand": true,
"transcript": "ENST00000935700.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "K",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18990,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 5856,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290259.2",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277188.1",
"strand": true,
"transcript": "NM_001290259.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "K",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18528,
"cdna_start": 548,
"cds_end": null,
"cds_length": 5856,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370349.2",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357278.1",
"strand": true,
"transcript": "NM_001370349.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 820,
"aa_ref": "K",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 691,
"cds_end": null,
"cds_length": 2465,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000494284.6",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424078.1",
"strand": true,
"transcript": "ENST00000494284.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 812,
"aa_ref": "K",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2439,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481385.6",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425227.1",
"strand": true,
"transcript": "ENST00000481385.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 736,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 810,
"cds_end": null,
"cds_length": 2211,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001290260.2",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277189.1",
"strand": true,
"transcript": "NM_001290260.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 103,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 486,
"cdna_start": 406,
"cds_end": null,
"cds_length": 313,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000514822.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Lys78Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424197.1",
"strand": true,
"transcript": "ENST00000514822.1",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "K",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19141,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 6147,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011535648.4",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Lys157Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533950.1",
"strand": true,
"transcript": "XM_011535648.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "K",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19011,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 5856,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418528.1",
"gene_hgnc_id": 8921,
"gene_symbol": "PHF3",
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"intron_rank": null,
"intron_rank_end": null,
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