← 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: 1-171588461-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171588461&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRRC2C",
"hgnc_id": 24903,
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001387844.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 61147,
"alphamissense_prediction": null,
"alphamissense_score": 0.0669,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0018080472946166992,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8697,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001387844.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647382.2",
"protein_coding": true,
"protein_id": "NP_001374773.1",
"strand": true,
"transcript": "NM_001387844.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8697,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000647382.2",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387844.1",
"protein_coding": true,
"protein_id": "ENSP00000495867.2",
"strand": true,
"transcript": "ENST00000647382.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "T",
"aa_start": 2717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10175,
"cdna_start": 8206,
"cds_end": null,
"cds_length": 8454,
"cds_start": 8149,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000426496.6",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8149A>G",
"hgvs_p": "p.Thr2717Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410219.3",
"strand": true,
"transcript": "ENST00000426496.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "T",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000495585.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Thr1199Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420382.1",
"strand": true,
"transcript": "ENST00000495585.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2819,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10366,
"cdna_start": 8397,
"cds_end": null,
"cds_length": 8460,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000367742.7",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356716.3",
"strand": true,
"transcript": "ENST00000367742.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "T",
"aa_start": 2717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10381,
"cdna_start": 8412,
"cds_end": null,
"cds_length": 8454,
"cds_start": 8149,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_015172.4",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8149A>G",
"hgvs_p": "p.Thr2717Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055987.2",
"strand": true,
"transcript": "NM_015172.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "T",
"aa_start": 2717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10355,
"cdna_start": 8386,
"cds_end": null,
"cds_length": 8454,
"cds_start": 8149,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000338920.8",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8149A>G",
"hgvs_p": "p.Thr2717Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343629.4",
"strand": true,
"transcript": "ENST00000338920.8",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 909,
"aa_ref": "T",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000644916.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.2323A>G",
"hgvs_p": "p.Thr775Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495968.1",
"strand": true,
"transcript": "ENST00000644916.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 158,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 336,
"cds_end": null,
"cds_length": 477,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000498596.5",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Thr112Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493580.1",
"strand": true,
"transcript": "ENST00000498596.5",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2903,
"aa_ref": "T",
"aa_start": 2724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10639,
"cdna_start": 8433,
"cds_end": null,
"cds_length": 8712,
"cds_start": 8170,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245015.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8170A>G",
"hgvs_p": "p.Thr2724Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245072.1",
"strand": true,
"transcript": "XM_005245015.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2901,
"aa_ref": "T",
"aa_start": 2722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10633,
"cdna_start": 8427,
"cds_end": null,
"cds_length": 8706,
"cds_start": 8164,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245016.6",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8164A>G",
"hgvs_p": "p.Thr2722Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245073.1",
"strand": true,
"transcript": "XM_005245016.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8697,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245018.4",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245075.1",
"strand": true,
"transcript": "XM_005245018.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2896,
"aa_ref": "T",
"aa_start": 2717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10618,
"cdna_start": 8412,
"cds_end": null,
"cds_length": 8691,
"cds_start": 8149,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_006711238.5",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8149A>G",
"hgvs_p": "p.Thr2717Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711301.1",
"strand": true,
"transcript": "XM_006711238.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2896,
"aa_ref": "T",
"aa_start": 2717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10618,
"cdna_start": 8412,
"cds_end": null,
"cds_length": 8691,
"cds_start": 8149,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_017000760.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8149A>G",
"hgvs_p": "p.Thr2717Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856249.1",
"strand": true,
"transcript": "XM_017000760.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2858,
"aa_ref": "T",
"aa_start": 2724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10692,
"cdna_start": 8433,
"cds_end": null,
"cds_length": 8577,
"cds_start": 8170,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245020.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8170A>G",
"hgvs_p": "p.Thr2724Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245077.1",
"strand": true,
"transcript": "XM_005245020.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2853,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10677,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8562,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_017000761.2",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856250.1",
"strand": true,
"transcript": "XM_017000761.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2824,
"aa_ref": "T",
"aa_start": 2724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10402,
"cdna_start": 8433,
"cds_end": null,
"cds_length": 8475,
"cds_start": 8170,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245023.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8170A>G",
"hgvs_p": "p.Thr2724Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245080.1",
"strand": true,
"transcript": "XM_005245023.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2819,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10387,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8460,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245024.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245081.1",
"strand": true,
"transcript": "XM_005245024.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2779,
"aa_ref": "T",
"aa_start": 2724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 8433,
"cds_end": null,
"cds_length": 8340,
"cds_start": 8170,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245025.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8170A>G",
"hgvs_p": "p.Thr2724Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245082.1",
"strand": true,
"transcript": "XM_005245025.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2774,
"aa_ref": "T",
"aa_start": 2719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10440,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8325,
"cds_start": 8155,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005245026.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8155A>G",
"hgvs_p": "p.Thr2719Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245083.1",
"strand": true,
"transcript": "XM_005245026.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2719,
"aa_ref": "H",
"aa_start": 2689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10298,
"cdna_start": 8329,
"cds_end": null,
"cds_length": 8160,
"cds_start": 8066,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_005245027.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8066A>G",
"hgvs_p": "p.His2689Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245084.1",
"strand": true,
"transcript": "XM_005245027.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "H",
"aa_start": 2689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10351,
"cdna_start": 8329,
"cds_end": null,
"cds_length": 8157,
"cds_start": 8066,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_005245028.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8066A>G",
"hgvs_p": "p.His2689Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245085.1",
"strand": true,
"transcript": "XM_005245028.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "H",
"aa_start": 2684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10283,
"cdna_start": 8314,
"cds_end": null,
"cds_length": 8145,
"cds_start": 8051,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_005245029.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8051A>G",
"hgvs_p": "p.His2684Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245086.1",
"strand": true,
"transcript": "XM_005245029.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2713,
"aa_ref": "H",
"aa_start": 2684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10336,
"cdna_start": 8314,
"cds_end": null,
"cds_length": 8142,
"cds_start": 8051,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047415746.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8051A>G",
"hgvs_p": "p.His2684Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271702.1",
"strand": true,
"transcript": "XM_047415746.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2708,
"aa_ref": "H",
"aa_start": 2689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8610,
"cdna_start": 8329,
"cds_end": null,
"cds_length": 8127,
"cds_start": 8066,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047415747.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.8066A>G",
"hgvs_p": "p.His2689Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271703.1",
"strand": true,
"transcript": "XM_047415747.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 379,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000492811.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "n.173A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492811.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2421847",
"effect": "missense_variant",
"frequency_reference_population": 0.037892185,
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"gnomad_exomes_ac": 56856,
"gnomad_exomes_af": 0.0389052,
"gnomad_exomes_homalt": 1213,
"gnomad_genomes_ac": 4291,
"gnomad_genomes_af": 0.0281728,
"gnomad_genomes_homalt": 96,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1309,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.149,
"pos": 171588461,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.101,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001387844.1"
}
]
}