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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: 17-35002030-GC-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35002030&ref=GC&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LIG3",
"hgnc_id": 6600,
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_013975.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8382,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013975.4",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378526.9",
"protein_coding": true,
"protein_id": "NP_039269.2",
"strand": true,
"transcript": "NM_013975.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8382,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378526.9",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013975.4",
"protein_coding": true,
"protein_id": "ENSP00000367787.3",
"strand": true,
"transcript": "ENST00000378526.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 949,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2681,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262327.9",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262327.4",
"strand": true,
"transcript": "ENST00000262327.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 3403,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858902.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528961.1",
"strand": true,
"transcript": "ENST00000858902.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858903.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528962.1",
"strand": true,
"transcript": "ENST00000858903.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8366,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932519.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602578.1",
"strand": true,
"transcript": "ENST00000932519.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932520.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602579.1",
"strand": true,
"transcript": "ENST00000932520.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961393.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631452.1",
"strand": true,
"transcript": "ENST00000961393.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961396.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631455.1",
"strand": true,
"transcript": "ENST00000961396.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 2614,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961395.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2561_2562delGCinsCA",
"hgvs_p": "p.Arg854Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631454.1",
"strand": true,
"transcript": "ENST00000961395.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2525,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961394.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2525_2526delGCinsCA",
"hgvs_p": "p.Arg842Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631453.1",
"strand": true,
"transcript": "ENST00000961394.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858900.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2456_2457delGCinsCA",
"hgvs_p": "p.Arg819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528959.1",
"strand": true,
"transcript": "ENST00000858900.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858904.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2456_2457delGCinsCA",
"hgvs_p": "p.Arg819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528963.1",
"strand": true,
"transcript": "ENST00000858904.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 949,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002311.5",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002302.2",
"strand": true,
"transcript": "NM_002311.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 939,
"aa_ref": "R",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858901.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2390_2391delGCinsCA",
"hgvs_p": "p.Arg797Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528960.1",
"strand": true,
"transcript": "ENST00000858901.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435968.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2627_2628delGCinsCA",
"hgvs_p": "p.Arg876Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291924.1",
"strand": true,
"transcript": "XM_047435968.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6711,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435969.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291925.1",
"strand": true,
"transcript": "XM_047435969.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435970.1",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291926.1",
"strand": true,
"transcript": "XM_047435970.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "R",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8357,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257970.5",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2627_2628delGCinsCA",
"hgvs_p": "p.Arg876Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258027.1",
"strand": true,
"transcript": "XM_005257970.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8705,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024624.2",
"gene_hgnc_id": 6600,
"gene_symbol": "LIG3",
"hgvs_c": "c.2600_2601delGCinsCA",
"hgvs_p": "p.Arg867Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880113.1",
"strand": true,
"transcript": "XM_017024624.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "R",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6530,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 21,
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