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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: X-154364638-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154364638&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM5",
"PP3_Strong",
"PP5_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"inheritance_mode": "XL,AD,AR,Unknown",
"pathogenic_score": 8,
"score": 4,
"transcript": "NM_001110556.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3_Strong,PP5_Moderate,BS2",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9828,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.73,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " X-linked,Cardiac valvular dysplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9888577461242676,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 7944,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001110556.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369850.10",
"protein_coding": true,
"protein_id": "NP_001104026.1",
"strand": false,
"transcript": "NM_001110556.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 7944,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000369850.10",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110556.2",
"protein_coding": true,
"protein_id": "ENSP00000358866.3",
"strand": false,
"transcript": "ENST00000369850.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8278,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 7920,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000360319.9",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353467.4",
"strand": false,
"transcript": "ENST00000360319.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "P",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8240,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 7863,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000369856.8",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Pro610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358872.4",
"strand": false,
"transcript": "ENST00000369856.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2650,
"aa_ref": "P",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8520,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 7953,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888339.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1943C>T",
"hgvs_p": "p.Pro648Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558398.1",
"strand": false,
"transcript": "ENST00000888339.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 7929,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888343.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558402.1",
"strand": false,
"transcript": "ENST00000888343.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 7920,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001456.4",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001447.2",
"strand": false,
"transcript": "NM_001456.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "P",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888340.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558399.1",
"strand": false,
"transcript": "ENST00000888340.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964813.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634872.1",
"strand": false,
"transcript": "ENST00000964813.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8461,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 7896,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888341.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558400.1",
"strand": false,
"transcript": "ENST00000888341.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2607,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 7824,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888338.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558397.1",
"strand": false,
"transcript": "ENST00000888338.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2572,
"aa_ref": "P",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 7719,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934717.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Pro570Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604776.1",
"strand": false,
"transcript": "ENST00000934717.1",
"transcript_support_level": null
},
{
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"aa_length": 2450,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7914,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 7353,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888342.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558401.1",
"strand": false,
"transcript": "ENST00000888342.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2317,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 6954,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888344.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558403.1",
"strand": false,
"transcript": "ENST00000888344.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1574,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5083,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 4725,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000422373.6",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416926.2",
"strand": false,
"transcript": "ENST00000422373.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 989,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964814.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Pro637Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634873.1",
"strand": false,
"transcript": "ENST00000964814.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 435,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673639.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.277+798C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501210.2",
"strand": false,
"transcript": "ENST00000673639.2",
"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": 8225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000420627.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*51C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408921.1",
"strand": false,
"transcript": "ENST00000420627.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465144.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465144.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000610817.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*518C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480593.2",
"strand": false,
"transcript": "ENST00000610817.5",
"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": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676696.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*518C>T",
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