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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: 1-15765006-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15765006&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15765006,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001024215.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "NM_017556.4",
"protein_id": "NP_060026.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "ENST00000375766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017556.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000375766.8",
"protein_id": "ENSP00000364921.3",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "NM_017556.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375766.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000441801.6",
"protein_id": "ENSP00000416387.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 374,
"cds_start": 23,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441801.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000375771.5",
"protein_id": "ENSP00000364926.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375771.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000915887.1",
"protein_id": "ENSP00000585946.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 397,
"cds_start": 23,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915887.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908351.1",
"protein_id": "ENSP00000578410.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 385,
"cds_start": 23,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908351.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000915876.1",
"protein_id": "ENSP00000585935.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 385,
"cds_start": 23,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915876.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "NM_001024215.1",
"protein_id": "NP_001019386.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 374,
"cds_start": 23,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024215.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "NM_001350151.2",
"protein_id": "NP_001337080.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350151.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908346.1",
"protein_id": "ENSP00000578405.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908346.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908347.1",
"protein_id": "ENSP00000578406.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908347.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908348.1",
"protein_id": "ENSP00000578407.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908348.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908349.1",
"protein_id": "ENSP00000578408.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908349.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908350.1",
"protein_id": "ENSP00000578409.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908350.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908352.1",
"protein_id": "ENSP00000578411.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908352.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908353.1",
"protein_id": "ENSP00000578412.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908353.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908354.1",
"protein_id": "ENSP00000578413.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908354.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908355.1",
"protein_id": "ENSP00000578414.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908355.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908356.1",
"protein_id": "ENSP00000578415.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908356.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908358.1",
"protein_id": "ENSP00000578417.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908358.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908360.1",
"protein_id": "ENSP00000578419.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908360.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "ENST00000908361.1",
"protein_id": "ENSP00000578420.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 373,
"cds_start": 23,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3031,
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"aa_start": 8,
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"aa_length": 309,
"cds_start": 23,
"cds_end": null,
"cds_length": 930,
"cdna_start": 287,
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"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423175.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr",
"transcript": "XM_047423176.1",
"protein_id": "XP_047279132.1",
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"aa_start": 8,
"aa_end": null,
"aa_length": 309,
"cds_start": 23,
"cds_end": null,
"cds_length": 930,
"cdna_start": 152,
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"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423176.1"
}
],
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"dbsnp": "rs752828267",
"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": 0.7483866214752197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.427,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.079,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001024215.1",
"gene_symbol": "FBLIM1",
"hgnc_id": 24686,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Arg8Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}