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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: 21-46194555-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46194555&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LSS",
"hgnc_id": 6708,
"hgvs_c": "c.1924T>A",
"hgvs_p": "p.Leu642Met",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002340.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.0881,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10157343745231628,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_002340.6",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1924T>A",
"hgvs_p": "p.Leu642Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397728.8",
"protein_coding": true,
"protein_id": "NP_002331.3",
"strand": false,
"transcript": "NM_002340.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000397728.8",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1924T>A",
"hgvs_p": "p.Leu642Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002340.6",
"protein_coding": true,
"protein_id": "ENSP00000380837.2",
"strand": false,
"transcript": "ENST00000397728.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000356396.8",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1924T>A",
"hgvs_p": "p.Leu642Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348762.3",
"strand": false,
"transcript": "ENST00000356396.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 652,
"aa_ref": "L",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000457828.6",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1684T>A",
"hgvs_p": "p.Leu562Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409191.2",
"strand": false,
"transcript": "ENST00000457828.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 742,
"aa_ref": "L",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4296,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000908051.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1954T>A",
"hgvs_p": "p.Leu652Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578110.1",
"strand": false,
"transcript": "ENST00000908051.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001001438.3",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1924T>A",
"hgvs_p": "p.Leu642Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001438.1",
"strand": false,
"transcript": "NM_001001438.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 731,
"aa_ref": "L",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4212,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957230.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1921T>A",
"hgvs_p": "p.Leu641Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627289.1",
"strand": false,
"transcript": "ENST00000957230.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 731,
"aa_ref": "L",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957231.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1921T>A",
"hgvs_p": "p.Leu641Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627290.1",
"strand": false,
"transcript": "ENST00000957231.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 731,
"aa_ref": "L",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4186,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957233.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1921T>A",
"hgvs_p": "p.Leu641Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627292.1",
"strand": false,
"transcript": "ENST00000957233.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 721,
"aa_ref": "L",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001145436.2",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1891T>A",
"hgvs_p": "p.Leu631Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138908.1",
"strand": false,
"transcript": "NM_001145436.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 721,
"aa_ref": "L",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000522411.5",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1891T>A",
"hgvs_p": "p.Leu631Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429133.1",
"strand": false,
"transcript": "ENST00000522411.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 715,
"aa_ref": "L",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957229.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1873T>A",
"hgvs_p": "p.Leu625Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627288.1",
"strand": false,
"transcript": "ENST00000957229.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 713,
"aa_ref": "L",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908053.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1867T>A",
"hgvs_p": "p.Leu623Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578112.1",
"strand": false,
"transcript": "ENST00000908053.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 710,
"aa_ref": "L",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1858,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908050.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1858T>A",
"hgvs_p": "p.Leu620Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578109.1",
"strand": false,
"transcript": "ENST00000908050.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 709,
"aa_ref": "L",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000937739.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1855T>A",
"hgvs_p": "p.Leu619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607798.1",
"strand": false,
"transcript": "ENST00000937739.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 699,
"aa_ref": "L",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908054.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1825T>A",
"hgvs_p": "p.Leu609Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578113.1",
"strand": false,
"transcript": "ENST00000908054.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 697,
"aa_ref": "L",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000937740.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1819T>A",
"hgvs_p": "p.Leu607Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607799.1",
"strand": false,
"transcript": "ENST00000937740.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 655,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908052.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1693T>A",
"hgvs_p": "p.Leu565Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578111.1",
"strand": false,
"transcript": "ENST00000908052.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 652,
"aa_ref": "L",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001145437.2",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1684T>A",
"hgvs_p": "p.Leu562Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138909.1",
"strand": false,
"transcript": "NM_001145437.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 633,
"aa_ref": "L",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1627,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000937737.1",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.1627T>A",
"hgvs_p": "p.Leu543Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607796.1",
"strand": false,
"transcript": "ENST00000937737.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 135,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 517,
"cdna_start": 26,
"cds_end": null,
"cds_length": 408,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000419093.5",
"gene_hgnc_id": 6708,
"gene_symbol": "LSS",
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Leu9Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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