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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: 1-15770439-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15770439&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15770439,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000375766.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "NM_017556.4",
"protein_id": "NP_060026.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 572,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "ENST00000375766.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "ENST00000375766.8",
"protein_id": "ENSP00000364921.3",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 572,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "NM_017556.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "ENST00000441801.6",
"protein_id": "ENSP00000416387.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "ENST00000375771.5",
"protein_id": "ENSP00000364926.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 572,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "NM_001024215.1",
"protein_id": "NP_001019386.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "NM_001350151.2",
"protein_id": "NP_001337080.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 572,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ser94Cys",
"transcript": "NM_001024216.3",
"protein_id": "NP_001019387.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 276,
"cds_start": 281,
"cds_end": null,
"cds_length": 831,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ser94Cys",
"transcript": "ENST00000332305.5",
"protein_id": "ENSP00000364920.2",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 276,
"cds_start": 281,
"cds_end": null,
"cds_length": 831,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ser94Cys",
"transcript": "ENST00000502739.5",
"protein_id": "ENSP00000424920.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 143,
"cds_start": 281,
"cds_end": null,
"cds_length": 434,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_005245900.2",
"protein_id": "XP_005245957.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_005245901.2",
"protein_id": "XP_005245958.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_005245902.2",
"protein_id": "XP_005245959.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_005245903.2",
"protein_id": "XP_005245960.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_006710704.4",
"protein_id": "XP_006710767.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_006710705.2",
"protein_id": "XP_006710768.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_011541616.3",
"protein_id": "XP_011539918.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_017001519.3",
"protein_id": "XP_016857008.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_017001520.3",
"protein_id": "XP_016857009.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_017001521.3",
"protein_id": "XP_016857010.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 924,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_017001523.2",
"protein_id": "XP_016857012.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_017001524.2",
"protein_id": "XP_016857013.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 374,
"cds_start": 572,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_011541617.3",
"protein_id": "XP_011539919.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 572,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.572C>G",
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
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"exon_count": 8,
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"protein_id": "XP_047279131.1",
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 8,
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"gene_symbol": "FBLIM1",
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"hgvs_p": "p.Ser191Cys",
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"protein_id": "XP_047279132.1",
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"cdna_start": 701,
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"cdna_length": 1708,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBLIM1",
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"dbsnp": "rs10927851",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2696959376335144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.2493,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.73,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375766.8",
"gene_symbol": "FBLIM1",
"hgnc_id": 24686,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}