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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: 5-65992771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=65992771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 65992771,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001253699.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "NM_001253697.2",
"protein_id": "NP_001240626.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1412,
"cds_start": 53,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284037.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253697.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000284037.10",
"protein_id": "ENSP00000284037.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1412,
"cds_start": 53,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001253697.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284037.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000506030.6",
"protein_id": "ENSP00000426632.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1419,
"cds_start": 53,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506030.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000380943.6",
"protein_id": "ENSP00000370330.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380943.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000874140.1",
"protein_id": "ENSP00000544199.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1460,
"cds_start": 53,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874140.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "NM_001253699.2",
"protein_id": "NP_001240628.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1419,
"cds_start": 53,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253699.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000699005.1",
"protein_id": "ENSP00000514083.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1415,
"cds_start": 53,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699005.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000874143.1",
"protein_id": "ENSP00000544202.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1412,
"cds_start": 53,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874143.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000925653.1",
"protein_id": "ENSP00000595712.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1408,
"cds_start": 53,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925653.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000874142.1",
"protein_id": "ENSP00000544201.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1389,
"cds_start": 53,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874142.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "NM_018695.4",
"protein_id": "NP_061165.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018695.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000699000.1",
"protein_id": "ENSP00000514078.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699000.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000874139.1",
"protein_id": "ENSP00000544198.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874139.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000925652.1",
"protein_id": "ENSP00000595711.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
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"cds_length": 4116,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925652.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000956967.1",
"protein_id": "ENSP00000627026.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1371,
"cds_start": 53,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956967.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "NM_001253701.2",
"protein_id": "NP_001240630.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1367,
"cds_start": 53,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253701.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000511297.5",
"protein_id": "ENSP00000422766.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 1367,
"cds_start": 53,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511297.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000699007.1",
"protein_id": "ENSP00000514085.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1350,
"cds_start": 53,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699007.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "NM_001253698.2",
"protein_id": "NP_001240627.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1346,
"cds_start": 53,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253698.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000380938.6",
"protein_id": "ENSP00000370325.2",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 1346,
"cds_start": 53,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380938.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000699009.1",
"protein_id": "ENSP00000514087.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1345,
"cds_start": 53,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699009.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000874141.1",
"protein_id": "ENSP00000544200.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1345,
"cds_start": 53,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874141.1"
},
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
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"hgvs_c": "n.53G>A",
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"transcript": "ENST00000699003.1",
"protein_id": "ENSP00000514081.1",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "n.53G>A",
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"transcript": "ENST00000699006.1",
"protein_id": "ENSP00000514084.1",
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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": "ENST00000699006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "n.53G>A",
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"transcript": "ENST00000699011.1",
"protein_id": "ENSP00000514090.1",
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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": "ENST00000699011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "n.-215-19278G>A",
"hgvs_p": null,
"transcript": "ENST00000699012.1",
"protein_id": "ENSP00000514091.1",
"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": "ENST00000699012.1"
}
],
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"dbsnp": "rs1162131364",
"frequency_reference_population": 0.0000049581777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410596,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46465861797332764,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.327,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.889,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001253699.2",
"gene_symbol": "ERBIN",
"hgnc_id": 15842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}