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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: 16-47650919-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47650919&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"stop_gained",
"splice_region_variant"
],
"gene_symbol": "PHKB",
"hgnc_id": 8927,
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"inheritance_mode": "AR",
"pathogenic_score": 21,
"score": 21,
"transcript": "NM_000293.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PP3,PP5_Very_Strong",
"acmg_score": 21,
"allele_count_reference_population": 271,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "16",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Glycogen storage disease IXb,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_000293.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323584.10",
"protein_coding": true,
"protein_id": "NP_000284.1",
"strand": true,
"transcript": "NM_000293.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000323584.10",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000293.3",
"protein_coding": true,
"protein_id": "ENSP00000313504.5",
"strand": true,
"transcript": "ENST00000323584.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "Q",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 3261,
"cds_start": 1948,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000566044.5",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1948C>T",
"hgvs_p": "p.Gln650*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456729.1",
"strand": true,
"transcript": "ENST00000566044.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2047,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940565.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610624.1",
"strand": true,
"transcript": "ENST00000940565.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2047,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970599.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640658.1",
"strand": true,
"transcript": "ENST00000970599.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "Q",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 3309,
"cds_start": 1996,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970601.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Gln666*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640660.1",
"strand": true,
"transcript": "ENST00000970601.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001363837.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350766.1",
"strand": true,
"transcript": "NM_001363837.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5464,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000299167.12",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299167.8",
"strand": true,
"transcript": "ENST00000299167.12",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "Q",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1963,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970603.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1963C>T",
"hgvs_p": "p.Gln655*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640662.1",
"strand": true,
"transcript": "ENST00000970603.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 3267,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970604.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640663.1",
"strand": true,
"transcript": "ENST00000970604.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "Q",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 3261,
"cds_start": 1948,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001031835.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1948C>T",
"hgvs_p": "p.Gln650*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027005.1",
"strand": true,
"transcript": "NM_001031835.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "Q",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2047,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970606.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640665.1",
"strand": true,
"transcript": "ENST00000970606.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "Q",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 3204,
"cds_start": 1891,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000868353.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Gln631*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538412.1",
"strand": true,
"transcript": "ENST00000868353.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "Q",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 3204,
"cds_start": 1891,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000970600.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Gln631*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640659.1",
"strand": true,
"transcript": "ENST00000970600.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "Q",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 3177,
"cds_start": 1864,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000868352.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Gln622*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538411.1",
"strand": true,
"transcript": "ENST00000868352.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1810,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000970605.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640664.1",
"strand": true,
"transcript": "ENST00000970605.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "Q",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 3102,
"cds_start": 1789,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000970598.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Gln597*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640657.1",
"strand": true,
"transcript": "ENST00000970598.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 995,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 2988,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000868354.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538413.1",
"strand": true,
"transcript": "ENST00000868354.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 941,
"aa_ref": "Q",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1969,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970602.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Gln657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640661.1",
"strand": true,
"transcript": "ENST00000970602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000568171.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.90C>T",
"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": "ENST00000568171.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
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{
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],
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]
}