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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: 16-2037561-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2037561&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NHERF2",
"hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001130012.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 71038,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1014,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001130012.3",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424542.7",
"protein_coding": true,
"protein_id": "NP_001123484.1",
"strand": true,
"transcript": "NM_001130012.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1014,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000424542.7",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130012.3",
"protein_coding": true,
"protein_id": "ENSP00000408005.2",
"strand": true,
"transcript": "ENST00000424542.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 894,
"cds_end": null,
"cds_length": 981,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000432365.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402857.2",
"strand": true,
"transcript": "ENST00000432365.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 346,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1041,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000901526.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571585.1",
"strand": true,
"transcript": "ENST00000901526.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 333,
"aa_ref": "S",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1002,
"cds_start": 804,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000901525.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Ser268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571584.1",
"strand": true,
"transcript": "ENST00000901525.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 920,
"cds_end": null,
"cds_length": 981,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004785.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004776.3",
"strand": true,
"transcript": "NM_004785.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 953,
"cds_end": null,
"cds_length": 978,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960133.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630192.1",
"strand": true,
"transcript": "ENST00000960133.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 322,
"aa_ref": "S",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 918,
"cds_end": null,
"cds_length": 969,
"cds_start": 804,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960134.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Ser268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630193.1",
"strand": true,
"transcript": "ENST00000960134.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 277,
"aa_ref": "S",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 789,
"cds_end": null,
"cds_length": 834,
"cds_start": 636,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901524.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ser212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571583.1",
"strand": true,
"transcript": "ENST00000901524.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 266,
"aa_ref": "S",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 751,
"cds_end": null,
"cds_length": 801,
"cds_start": 636,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960135.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ser212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630194.1",
"strand": true,
"transcript": "ENST00000960135.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": 658,
"cds_end": null,
"cds_length": 696,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000563587.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ser166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455909.1",
"strand": true,
"transcript": "ENST00000563587.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 226,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 541,
"cds_end": null,
"cds_length": 681,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001252073.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239002.1",
"strand": true,
"transcript": "NM_001252073.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 226,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 564,
"cds_end": null,
"cds_length": 681,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000566198.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456895.1",
"strand": true,
"transcript": "ENST00000566198.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 224,
"aa_ref": "S",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 535,
"cds_end": null,
"cds_length": 675,
"cds_start": 477,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001252075.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239004.1",
"strand": true,
"transcript": "NM_001252075.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "S",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": 565,
"cds_end": null,
"cds_length": 671,
"cds_start": 477,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000565855.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454690.1",
"strand": true,
"transcript": "ENST00000565855.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 215,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 541,
"cds_end": null,
"cds_length": 648,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001252076.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239005.1",
"strand": true,
"transcript": "NM_001252076.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 165,
"aa_ref": "S",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 431,
"cds_end": null,
"cds_length": 498,
"cds_start": 429,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000561844.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Ser143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457755.1",
"strand": true,
"transcript": "ENST00000561844.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 920,
"cds_end": null,
"cds_length": 885,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434923.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290879.1",
"strand": true,
"transcript": "XM_047434923.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 624,
"cds_end": null,
"cds_length": 696,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434924.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ser166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290880.1",
"strand": true,
"transcript": "XM_047434924.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 213,
"aa_ref": "S",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 535,
"cds_end": null,
"cds_length": 642,
"cds_start": 477,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017023894.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879383.2",
"strand": true,
"transcript": "XM_017023894.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 202,
"aa_ref": "S",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 609,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006720981.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.411G>A",
"hgvs_p": "p.Ser137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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