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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: 18-63979936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63979936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SERPINB8",
"hgnc_id": 8952,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_002640.4",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "HMSD",
"hgnc_id": 23037,
"hgvs_c": "n.626C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000481726.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 2801,
"alphamissense_prediction": null,
"alphamissense_score": 0.1126,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "18",
"clinvar_classification": "Likely benign",
"clinvar_disease": "SERPINB8-related disorder,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007079184055328369,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002640.4",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397985.7",
"protein_coding": true,
"protein_id": "NP_002631.3",
"strand": true,
"transcript": "NM_002640.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397985.7",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002640.4",
"protein_coding": true,
"protein_id": "ENSP00000381072.2",
"strand": true,
"transcript": "ENST00000397985.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 242,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 366,
"cds_end": null,
"cds_length": 729,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397988.7",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381075.3",
"strand": true,
"transcript": "ENST00000397988.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366198.1",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353127.1",
"strand": true,
"transcript": "NM_001366198.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_198833.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942130.1",
"strand": true,
"transcript": "NM_198833.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000353706.6",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331368.3",
"strand": true,
"transcript": "ENST00000353706.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1125,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858461.1",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528520.1",
"strand": true,
"transcript": "ENST00000858461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 259,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 404,
"cds_end": null,
"cds_length": 780,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348367.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335296.1",
"strand": true,
"transcript": "NM_001348367.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 259,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 371,
"cds_end": null,
"cds_length": 780,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636430.1",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489949.1",
"strand": true,
"transcript": "ENST00000636430.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 404,
"cds_end": null,
"cds_length": 744,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348368.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335297.1",
"strand": true,
"transcript": "NM_001348368.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 421,
"cds_end": null,
"cds_length": 744,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348369.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335298.1",
"strand": true,
"transcript": "NM_001348369.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 242,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1213,
"cdna_start": 404,
"cds_end": null,
"cds_length": 729,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001031848.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027018.1",
"strand": true,
"transcript": "NM_001031848.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001348370.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335299.1",
"strand": true,
"transcript": "NM_001348370.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001276490.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.-243C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263419.1",
"strand": true,
"transcript": "NM_001276490.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000542677.5",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.-243C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438328.1",
"strand": true,
"transcript": "ENST00000542677.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 979,
"cdna_start": 129,
"cds_end": null,
"cds_length": 567,
"cds_start": 127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000295211.5",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Pro43Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295211.5",
"strand": true,
"transcript": "ENST00000295211.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 163,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": 375,
"cds_end": null,
"cds_length": 493,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000441827.5",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393456.1",
"strand": true,
"transcript": "ENST00000441827.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 123,
"aa_ref": "P",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 512,
"cds_end": null,
"cds_length": 372,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448851.5",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Pro102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414580.1",
"strand": true,
"transcript": "ENST00000448851.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001348370.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335299.1",
"strand": true,
"transcript": "NM_001348370.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001276490.2",
"gene_hgnc_id": 8952,
"gene_symbol": "SERPINB8",
"hgvs_c": "c.-243C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263419.1",
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]
}