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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: 14-91937148-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91937148&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91937148,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001384158.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "NM_006329.4",
"protein_id": "NP_006320.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 448,
"cds_start": 178,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342058.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006329.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000342058.9",
"protein_id": "ENSP00000345008.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 448,
"cds_start": 178,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006329.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342058.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "ENST00000267620.14",
"protein_id": "ENSP00000267620.10",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 489,
"cds_start": 301,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267620.14"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"transcript": "ENST00000556154.5",
"protein_id": "ENSP00000451982.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 465,
"cds_start": 229,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556154.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "ENST00000706676.1",
"protein_id": "ENSP00000516492.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 506,
"cds_start": 352,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706676.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "NM_001384158.1",
"protein_id": "NP_001371087.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 489,
"cds_start": 301,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384158.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"transcript": "NM_001384159.1",
"protein_id": "NP_001371088.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 465,
"cds_start": 229,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384159.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "NM_001384160.1",
"protein_id": "NP_001371089.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 464,
"cds_start": 178,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384160.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000706677.1",
"protein_id": "ENSP00000516493.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 464,
"cds_start": 178,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706677.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000895482.1",
"protein_id": "ENSP00000565541.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 448,
"cds_start": 178,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895482.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000895483.1",
"protein_id": "ENSP00000565542.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 448,
"cds_start": 178,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895483.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000895484.1",
"protein_id": "ENSP00000565543.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 411,
"cds_start": 178,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895484.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.10G>C",
"hgvs_p": "p.Val4Leu",
"transcript": "NM_001384161.1",
"protein_id": "NP_001371090.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 408,
"cds_start": 10,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384161.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000969124.1",
"protein_id": "ENSP00000639183.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 407,
"cds_start": 178,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969124.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.10G>C",
"hgvs_p": "p.Val4Leu",
"transcript": "NM_001384162.1",
"protein_id": "NP_001371091.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 392,
"cds_start": 10,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384162.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.10G>C",
"hgvs_p": "p.Val4Leu",
"transcript": "ENST00000557570.2",
"protein_id": "ENSP00000450787.2",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 392,
"cds_start": 10,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557570.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.10G>C",
"hgvs_p": "p.Val4Leu",
"transcript": "ENST00000706679.1",
"protein_id": "ENSP00000516494.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 392,
"cds_start": 10,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706679.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000554468.5",
"protein_id": "ENSP00000451486.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 90,
"cds_start": 178,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554468.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"transcript": "XM_011536356.2",
"protein_id": "XP_011534658.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 481,
"cds_start": 229,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536356.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*144G>C",
"hgvs_p": null,
"transcript": "ENST00000557088.6",
"protein_id": "ENSP00000451002.1",
"transcript_support_level": 3,
"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": "ENST00000557088.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.424G>C",
"hgvs_p": null,
"transcript": "ENST00000557462.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000557462.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*144G>C",
"hgvs_p": null,
"transcript": "ENST00000706680.1",
"protein_id": "ENSP00000516495.1",
"transcript_support_level": null,
"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": "ENST00000706680.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
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"transcript": "ENST00000706681.1",
"protein_id": "ENSP00000516496.1",
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"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": "ENST00000706681.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*144G>C",
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"transcript": "ENST00000557088.6",
"protein_id": "ENSP00000451002.1",
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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": "ENST00000557088.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*144G>C",
"hgvs_p": null,
"transcript": "ENST00000706680.1",
"protein_id": "ENSP00000516495.1",
"transcript_support_level": null,
"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": "ENST00000706680.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*102G>C",
"hgvs_p": null,
"transcript": "ENST00000706681.1",
"protein_id": "ENSP00000516496.1",
"transcript_support_level": null,
"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": "ENST00000706681.1"
}
],
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"dbsnp": "rs121434299",
"frequency_reference_population": 0.000065055036,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000704565,
"gnomad_genomes_af": 0.0000131472,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6451807618141174,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.608,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6276,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.752,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001384158.1",
"gene_symbol": "FBLN5",
"hgnc_id": 3602,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu"
}
],
"clinvar_disease": " 3, age-related,Age-related macular degeneration,FBLN5-related disorder,Macular degeneration,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Macular degeneration, age-related, 3|not provided|Age-related macular degeneration|FBLN5-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}