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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-154349681-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154349681&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154349681,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001110556.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7520T>C",
"hgvs_p": "p.Ile2507Thr",
"transcript": "NM_001110556.2",
"protein_id": "NP_001104026.1",
"transcript_support_level": null,
"aa_start": 2507,
"aa_end": null,
"aa_length": 2647,
"cds_start": 7520,
"cds_end": null,
"cds_length": 7944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369850.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110556.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7520T>C",
"hgvs_p": "p.Ile2507Thr",
"transcript": "ENST00000369850.10",
"protein_id": "ENSP00000358866.3",
"transcript_support_level": 1,
"aa_start": 2507,
"aa_end": null,
"aa_length": 2647,
"cds_start": 7520,
"cds_end": null,
"cds_length": 7944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001110556.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369850.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7496T>C",
"hgvs_p": "p.Ile2499Thr",
"transcript": "ENST00000360319.9",
"protein_id": "ENSP00000353467.4",
"transcript_support_level": 1,
"aa_start": 2499,
"aa_end": null,
"aa_length": 2639,
"cds_start": 7496,
"cds_end": null,
"cds_length": 7920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360319.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7439T>C",
"hgvs_p": "p.Ile2480Thr",
"transcript": "ENST00000369856.8",
"protein_id": "ENSP00000358872.4",
"transcript_support_level": 1,
"aa_start": 2480,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7439,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369856.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.675T>C",
"hgvs_p": null,
"transcript": "ENST00000462590.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.4749T>C",
"hgvs_p": null,
"transcript": "ENST00000490936.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490936.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7529T>C",
"hgvs_p": "p.Ile2510Thr",
"transcript": "ENST00000888339.1",
"protein_id": "ENSP00000558398.1",
"transcript_support_level": null,
"aa_start": 2510,
"aa_end": null,
"aa_length": 2650,
"cds_start": 7529,
"cds_end": null,
"cds_length": 7953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888339.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7505T>C",
"hgvs_p": "p.Ile2502Thr",
"transcript": "ENST00000888343.1",
"protein_id": "ENSP00000558402.1",
"transcript_support_level": null,
"aa_start": 2502,
"aa_end": null,
"aa_length": 2642,
"cds_start": 7505,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888343.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7496T>C",
"hgvs_p": "p.Ile2499Thr",
"transcript": "NM_001456.4",
"protein_id": "NP_001447.2",
"transcript_support_level": null,
"aa_start": 2499,
"aa_end": null,
"aa_length": 2639,
"cds_start": 7496,
"cds_end": null,
"cds_length": 7920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001456.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7493T>C",
"hgvs_p": "p.Ile2498Thr",
"transcript": "ENST00000888340.1",
"protein_id": "ENSP00000558399.1",
"transcript_support_level": null,
"aa_start": 2498,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7493,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888340.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7493T>C",
"hgvs_p": "p.Ile2498Thr",
"transcript": "ENST00000964813.1",
"protein_id": "ENSP00000634872.1",
"transcript_support_level": null,
"aa_start": 2498,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7493,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964813.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7472T>C",
"hgvs_p": "p.Ile2491Thr",
"transcript": "ENST00000888341.1",
"protein_id": "ENSP00000558400.1",
"transcript_support_level": null,
"aa_start": 2491,
"aa_end": null,
"aa_length": 2631,
"cds_start": 7472,
"cds_end": null,
"cds_length": 7896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888341.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7400T>C",
"hgvs_p": "p.Ile2467Thr",
"transcript": "ENST00000888338.1",
"protein_id": "ENSP00000558397.1",
"transcript_support_level": null,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2607,
"cds_start": 7400,
"cds_end": null,
"cds_length": 7824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888338.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.7295T>C",
"hgvs_p": "p.Ile2432Thr",
"transcript": "ENST00000934717.1",
"protein_id": "ENSP00000604776.1",
"transcript_support_level": null,
"aa_start": 2432,
"aa_end": null,
"aa_length": 2572,
"cds_start": 7295,
"cds_end": null,
"cds_length": 7719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934717.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6929T>C",
"hgvs_p": "p.Ile2310Thr",
"transcript": "ENST00000888342.1",
"protein_id": "ENSP00000558401.1",
"transcript_support_level": null,
"aa_start": 2310,
"aa_end": null,
"aa_length": 2450,
"cds_start": 6929,
"cds_end": null,
"cds_length": 7353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888342.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6530T>C",
"hgvs_p": "p.Ile2177Thr",
"transcript": "ENST00000888344.1",
"protein_id": "ENSP00000558403.1",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 2317,
"cds_start": 6530,
"cds_end": null,
"cds_length": 6954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888344.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4301T>C",
"hgvs_p": "p.Ile1434Thr",
"transcript": "ENST00000422373.6",
"protein_id": "ENSP00000416926.2",
"transcript_support_level": 5,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1574,
"cds_start": 4301,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422373.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.2546T>C",
"hgvs_p": "p.Ile849Thr",
"transcript": "ENST00000964814.1",
"protein_id": "ENSP00000634873.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 989,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.278-991T>C",
"hgvs_p": null,
"transcript": "ENST00000673639.2",
"protein_id": "ENSP00000501210.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673639.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*5661T>C",
"hgvs_p": null,
"transcript": "ENST00000420627.5",
"protein_id": "ENSP00000408921.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420627.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.561T>C",
"hgvs_p": null,
"transcript": "ENST00000498491.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498491.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*6128T>C",
"hgvs_p": null,
"transcript": "ENST00000610817.5",
"protein_id": "ENSP00000480593.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"strand": false,
"consequences": [
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "FLNA",
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"transcript": "ENST00000678304.1",
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"biotype": "retained_intron",
"feature": "ENST00000678304.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
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"gene_symbol": "FLNA",
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"hgvs_c": "n.*5661T>C",
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"transcript": "ENST00000420627.5",
"protein_id": "ENSP00000408921.1",
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420627.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "FLNA",
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"hgvs_c": "n.*6128T>C",
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"transcript": "ENST00000610817.5",
"protein_id": "ENSP00000480593.2",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"feature": "ENST00000610817.5"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 45,
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"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
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"hgvs_c": "n.*6128T>C",
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"transcript": "ENST00000676696.1",
"protein_id": "ENSP00000503392.1",
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676696.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.68-851T>C",
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"transcript": "ENST00000498411.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498411.1"
}
],
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"dbsnp": "rs863223626",
"frequency_reference_population": 0.0000066091943,
"hom_count_reference_population": 1,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000637825,
"gnomad_genomes_af": 0.00000885308,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9709929823875427,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7117,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.212,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BP6",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001110556.2",
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.7520T>C",
"hgvs_p": "p.Ile2507Thr"
}
],
"clinvar_disease": " X-linked dominant, periventricular, type II,Frontometaphyseal dysplasia,Heterotopia,Melnick-Needles syndrome,Oto-palato-digital syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}