← 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: 5-150124300-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150124300&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PDGFRB",
"hgnc_id": 8804,
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_002609.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.47,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 4, idiopathic,Basal ganglia calcification",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.991112232208252,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002609.4",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261799.9",
"protein_coding": true,
"protein_id": "NP_002600.1",
"strand": false,
"transcript": "NM_002609.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000261799.9",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002609.4",
"protein_coding": true,
"protein_id": "ENSP00000261799.4",
"strand": false,
"transcript": "ENST00000261799.9",
"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": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000520579.5",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "n.*1287T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430026.1",
"strand": false,
"transcript": "ENST00000520579.5",
"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": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000520579.5",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "n.*1287T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430026.1",
"strand": false,
"transcript": "ENST00000520579.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5961,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 3423,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890716.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560775.1",
"strand": false,
"transcript": "ENST00000890716.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "L",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890721.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Leu685Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560780.1",
"strand": false,
"transcript": "ENST00000890721.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "L",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890727.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2030T>C",
"hgvs_p": "p.Leu677Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560786.1",
"strand": false,
"transcript": "ENST00000890727.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890715.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560774.1",
"strand": false,
"transcript": "ENST00000890715.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5850,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890717.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560776.1",
"strand": false,
"transcript": "ENST00000890717.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890718.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560777.1",
"strand": false,
"transcript": "ENST00000890718.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5394,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890723.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560782.1",
"strand": false,
"transcript": "ENST00000890723.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5381,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890724.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560783.1",
"strand": false,
"transcript": "ENST00000890724.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890725.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560784.1",
"strand": false,
"transcript": "ENST00000890725.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890726.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560785.1",
"strand": false,
"transcript": "ENST00000890726.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951660.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621719.1",
"strand": false,
"transcript": "ENST00000951660.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 3321,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951664.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621723.1",
"strand": false,
"transcript": "ENST00000951664.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "L",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 3318,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890720.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1970T>C",
"hgvs_p": "p.Leu657Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560779.1",
"strand": false,
"transcript": "ENST00000890720.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "L",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 3318,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000951663.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1970T>C",
"hgvs_p": "p.Leu657Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621722.1",
"strand": false,
"transcript": "ENST00000951663.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 3303,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951661.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621720.1",
"strand": false,
"transcript": "ENST00000951661.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 3231,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951662.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1883T>C",
"hgvs_p": "p.Leu628Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621721.1",
"strand": false,
"transcript": "ENST00000951662.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "L",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5535,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 3162,
"cds_start": 1814,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890719.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1814T>C",
"hgvs_p": "p.Leu605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560778.1",
"strand": false,
"transcript": "ENST00000890719.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "L",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5654,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001355016.2",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1781T>C",
"hgvs_p": "p.Leu594Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341945.1",
"strand": false,
"transcript": "NM_001355016.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "L",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5298,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 3012,
"cds_start": 1664,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890722.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1664T>C",
"hgvs_p": "p.Leu555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560781.1",
"strand": false,
"transcript": "ENST00000890722.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 945,
"aa_ref": "L",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5734,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2838,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001355017.2",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Leu497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341946.1",
"strand": false,
"transcript": "NM_001355017.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000520229.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "n.608T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000520229.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs397509381",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Basal ganglia calcification, idiopathic, 4",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.503,
"pos": 150124300,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.944,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_002609.4"
}
]
}