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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: 15-42402972-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42402972&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CAPN3",
"hgnc_id": 1480,
"hgvs_c": "c.1715_1716delGGinsCA",
"hgvs_p": "p.Arg572Pro",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000070.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258461",
"hgnc_id": null,
"hgvs_c": "n.*2169_*2170delGGinsCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000495723.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000070.3",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1715_1716delGGinsCA",
"hgvs_p": "p.Arg572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397163.8",
"protein_coding": true,
"protein_id": "NP_000061.1",
"strand": true,
"transcript": "NM_000070.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397163.8",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1715_1716delGGinsCA",
"hgvs_p": "p.Arg572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000070.3",
"protein_coding": true,
"protein_id": "ENSP00000380349.3",
"strand": true,
"transcript": "ENST00000397163.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 815,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357568.8",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1715_1716delGGinsCA",
"hgvs_p": "p.Arg572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350181.3",
"strand": true,
"transcript": "ENST00000357568.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 729,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349748.8",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1571_1572delGGinsCA",
"hgvs_p": "p.Arg524Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000183936.4",
"strand": true,
"transcript": "ENST00000349748.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 348,
"cds_end": null,
"cds_length": 930,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397200.8",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.179_180delGGinsCA",
"hgvs_p": "p.Arg60Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380384.4",
"strand": true,
"transcript": "ENST00000397200.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000495723.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*2169_*2170delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492063.1",
"strand": true,
"transcript": "ENST00000495723.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000495723.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*2169_*2170delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492063.1",
"strand": true,
"transcript": "ENST00000495723.1",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 815,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024344.2",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1715_1716delGGinsCA",
"hgvs_p": "p.Arg572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_077320.1",
"strand": true,
"transcript": "NM_024344.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 773,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318023.11",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1571_1572delGGinsCA",
"hgvs_p": "p.Arg524Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326281.8",
"strand": true,
"transcript": "ENST00000318023.11",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 729,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173087.2",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.1571_1572delGGinsCA",
"hgvs_p": "p.Arg524Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775110.1",
"strand": true,
"transcript": "NM_173087.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 371,
"cds_end": null,
"cds_length": 930,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173088.2",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.179_180delGGinsCA",
"hgvs_p": "p.Arg60Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775111.1",
"strand": true,
"transcript": "NM_173088.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "R",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 320,
"cds_end": null,
"cds_length": 767,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569827.5",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.179_180delGGinsCA",
"hgvs_p": "p.Arg60Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454379.1",
"strand": true,
"transcript": "ENST00000569827.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 174,
"cds_end": null,
"cds_length": 562,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567071.5",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "c.173_174delGGinsCA",
"hgvs_p": "p.Arg58Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456607.1",
"strand": true,
"transcript": "ENST00000567071.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000466369.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*1789_*1790delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492158.1",
"strand": true,
"transcript": "ENST00000466369.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000483208.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*2169_*2170delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491847.1",
"strand": true,
"transcript": "ENST00000483208.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000549793.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*1511_*1512delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491606.1",
"strand": true,
"transcript": "ENST00000549793.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000638141.2",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "n.1586_1587delGGinsCA",
"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": "ENST00000638141.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673646.1",
"gene_hgnc_id": 1480,
"gene_symbol": "CAPN3",
"hgvs_c": "n.179_180delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501007.1",
"strand": true,
"transcript": "ENST00000673646.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000466369.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*1789_*1790delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492158.1",
"strand": true,
"transcript": "ENST00000466369.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000483208.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258461",
"hgvs_c": "n.*2169_*2170delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491847.1",
"strand": true,
"transcript": "ENST00000483208.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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