← Back to variant description
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: 9-105471926-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105471926&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FSD1L",
"hgnc_id": 13753,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001145313.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 54744,
"alphamissense_prediction": null,
"alphamissense_score": 0.062,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002195000648498535,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7730,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1593,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145313.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000481272.6",
"protein_coding": true,
"protein_id": "NP_001138785.1",
"strand": true,
"transcript": "NM_001145313.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7730,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1593,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000481272.6",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145313.3",
"protein_coding": true,
"protein_id": "ENSP00000417492.1",
"strand": true,
"transcript": "ENST00000481272.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 381,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1146,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000495708.5",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420624.1",
"strand": true,
"transcript": "ENST00000495708.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 145,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 442,
"cds_end": null,
"cds_length": 438,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000469022.5",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487223.1",
"strand": true,
"transcript": "ENST00000469022.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 541,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1626,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955870.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625929.1",
"strand": true,
"transcript": "ENST00000955870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7667,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1530,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330739.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317668.1",
"strand": true,
"transcript": "NM_001330739.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1530,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394926.7",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378384.3",
"strand": true,
"transcript": "ENST00000394926.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7664,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1527,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001287191.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274120.1",
"strand": true,
"transcript": "NM_001287191.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1494,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001287192.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274121.1",
"strand": true,
"transcript": "NM_001287192.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1494,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000484973.5",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419691.1",
"strand": true,
"transcript": "ENST00000484973.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 473,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5778,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1422,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955871.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625930.1",
"strand": true,
"transcript": "ENST00000955871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 145,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 453,
"cds_end": null,
"cds_length": 438,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031919.5",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_114125.1",
"strand": true,
"transcript": "NM_031919.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 547,
"aa_ref": "N",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7664,
"cdna_start": 450,
"cds_end": null,
"cds_length": 1644,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011519077.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Asn127Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517379.1",
"strand": true,
"transcript": "XM_011519077.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "N",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7634,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1632,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011519078.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Asn134Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517380.2",
"strand": true,
"transcript": "XM_011519078.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "N",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7632,
"cdna_start": 454,
"cds_end": null,
"cds_length": 1629,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011519079.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Asn134Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517381.2",
"strand": true,
"transcript": "XM_011519079.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 541,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7763,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1626,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005252254.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252311.1",
"strand": true,
"transcript": "XM_005252254.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7727,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1590,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017015182.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870671.1",
"strand": true,
"transcript": "XM_017015182.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7634,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1497,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017015183.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870672.1",
"strand": true,
"transcript": "XM_017015183.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 362,
"aa_ref": "N",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7200,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1089,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017015185.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Asn134Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870674.1",
"strand": true,
"transcript": "XM_017015185.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 349,
"aa_ref": "N",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7288,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1050,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047423949.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Asn121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279905.1",
"strand": true,
"transcript": "XM_047423949.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 317,
"aa_ref": "N",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7192,
"cdna_start": 453,
"cds_end": null,
"cds_length": 954,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017015187.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asn89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870676.1",
"strand": true,
"transcript": "XM_017015187.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 384,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7195,
"cdna_start": null,
"cds_end": null,
"cds_length": 1155,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423948.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.-87A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279904.1",
"strand": true,
"transcript": "XM_047423948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 384,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7170,
"cdna_start": null,
"cds_end": null,
"cds_length": 1155,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017015184.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.-8+3602A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870673.1",
"strand": true,
"transcript": "XM_017015184.2",
"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": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000480279.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "n.288A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000480279.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs28503319",
"effect": "missense_variant",
"frequency_reference_population": 0.039721895,
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"gnomad_exomes_ac": 49936,
"gnomad_exomes_af": 0.0406579,
"gnomad_exomes_homalt": 1164,
"gnomad_genomes_ac": 4808,
"gnomad_genomes_af": 0.0320568,
"gnomad_genomes_homalt": 137,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1301,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.865,
"pos": 105471926,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.074,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001145313.3"
}
]
}