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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: 8-143559364-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143559364&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSDMD",
"hgnc_id": 25697,
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024736.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5618,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.514779806137085,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 139,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024736.7",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262580.9",
"protein_coding": true,
"protein_id": "NP_079012.3",
"strand": true,
"transcript": "NM_024736.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 139,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000262580.9",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024736.7",
"protein_coding": true,
"protein_id": "ENSP00000262580.4",
"strand": true,
"transcript": "ENST00000262580.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 216,
"cds_end": null,
"cds_length": 1599,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533063.5",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.173G>C",
"hgvs_p": "p.Arg58Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433958.1",
"strand": true,
"transcript": "ENST00000533063.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001166237.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159709.1",
"strand": true,
"transcript": "NM_001166237.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526406.5",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433209.1",
"strand": true,
"transcript": "ENST00000526406.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866629.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536688.1",
"strand": true,
"transcript": "ENST00000866629.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866630.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536689.1",
"strand": true,
"transcript": "ENST00000866630.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866631.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536690.1",
"strand": true,
"transcript": "ENST00000866631.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866632.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536691.1",
"strand": true,
"transcript": "ENST00000866632.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866633.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536692.1",
"strand": true,
"transcript": "ENST00000866633.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917301.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587360.1",
"strand": true,
"transcript": "ENST00000917301.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917302.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587361.1",
"strand": true,
"transcript": "ENST00000917302.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 379,
"cds_end": null,
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"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967708.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637767.1",
"strand": true,
"transcript": "ENST00000967708.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967709.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637768.1",
"strand": true,
"transcript": "ENST00000967709.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967710.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637769.1",
"strand": true,
"transcript": "ENST00000967710.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 275,
"cds_end": null,
"cds_length": 1455,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000967711.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637770.1",
"strand": true,
"transcript": "ENST00000967711.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 329,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 445,
"cds_end": null,
"cds_length": 990,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917300.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587359.1",
"strand": true,
"transcript": "ENST00000917300.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1101,
"cdna_start": 347,
"cds_end": null,
"cds_length": 831,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534018.5",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.77G>C",
"hgvs_p": "p.Arg26Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436684.1",
"strand": true,
"transcript": "ENST00000534018.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
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"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": 259,
"cds_end": null,
"cds_length": 494,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533348.5",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434386.1",
"strand": true,
"transcript": "ENST00000533348.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
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"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": 144,
"cds_end": null,
"cds_length": 461,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533888.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437065.1",
"strand": true,
"transcript": "ENST00000533888.1",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 113,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 442,
"cdna_start": 128,
"cds_end": null,
"cds_length": 343,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525721.1",
"gene_hgnc_id": 25697,
"gene_symbol": "GSDMD",
"hgvs_c": "c.29G>C",
"hgvs_p": "p.Arg10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434452.1",
"strand": true,
"transcript": "ENST00000525721.1",
"transcript_support_level": 4
},
{
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