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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: 20-64076859-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=64076859&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"stop_gained",
"splice_region_variant"
],
"gene_symbol": "RGS19",
"hgnc_id": 13735,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005873.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6813",
"hgnc_id": 50017,
"hgvs_c": "n.*96C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NR_106871.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 321,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_005873.3",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395042.2",
"protein_coding": true,
"protein_id": "NP_005864.1",
"strand": false,
"transcript": "NM_005873.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 321,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395042.2",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005873.3",
"protein_coding": true,
"protein_id": "ENSP00000378483.1",
"strand": false,
"transcript": "ENST00000395042.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 212,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000332298.9",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333194.5",
"strand": false,
"transcript": "ENST00000332298.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 231,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 183,
"cds_end": null,
"cds_length": 696,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910389.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580448.1",
"strand": false,
"transcript": "ENST00000910389.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 231,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 316,
"cds_end": null,
"cds_length": 696,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910392.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580451.1",
"strand": false,
"transcript": "ENST00000910392.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 188,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001039467.2",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034556.1",
"strand": false,
"transcript": "NM_001039467.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 379,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910390.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580449.1",
"strand": false,
"transcript": "ENST00000910390.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 2784,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910391.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580450.1",
"strand": false,
"transcript": "ENST00000910391.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 166,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910393.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580452.1",
"strand": false,
"transcript": "ENST00000910393.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 265,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910394.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580453.1",
"strand": false,
"transcript": "ENST00000910394.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 249,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910395.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580454.1",
"strand": false,
"transcript": "ENST00000910395.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936747.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606806.1",
"strand": false,
"transcript": "ENST00000936747.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 219,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944526.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614585.1",
"strand": false,
"transcript": "ENST00000944526.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 464,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011528485.3",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526787.1",
"strand": false,
"transcript": "XM_011528485.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 217,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 438,
"cds_end": null,
"cds_length": 654,
"cds_start": 28,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047439824.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Gln10*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295780.1",
"strand": false,
"transcript": "XM_047439824.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 246,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": null,
"cds_end": null,
"cds_length": 741,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528484.3",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.118-213C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526786.1",
"strand": false,
"transcript": "XM_011528484.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": null,
"cds_end": null,
"cds_length": 588,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005260182.4",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.-36-213C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260239.1",
"strand": false,
"transcript": "XM_005260182.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": null,
"cds_end": null,
"cds_length": 588,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005260183.3",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "c.-36-213C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260240.1",
"strand": false,
"transcript": "XM_005260183.3",
"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": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000493165.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "n.614C>T",
"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": "ENST00000493165.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 215,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479996.1",
"gene_hgnc_id": 13735,
"gene_symbol": "RGS19",
"hgvs_c": "n.133-213C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479996.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": false,
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