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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: 1-228097257-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228097257&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228097257,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001658.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "NM_001658.4",
"protein_id": "NP_001649.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272102.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001658.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000272102.10",
"protein_id": "ENSP00000272102.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272102.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "NM_001024226.2",
"protein_id": "NP_001019397.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024226.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "NM_001024227.1",
"protein_id": "NP_001019398.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024227.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "NM_001024228.2",
"protein_id": "NP_001019399.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024228.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000470558.5",
"protein_id": "ENSP00000514654.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470558.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000478336.5",
"protein_id": "ENSP00000514657.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478336.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000478424.5",
"protein_id": "ENSP00000514653.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478424.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862334.1",
"protein_id": "ENSP00000532393.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862334.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862335.1",
"protein_id": "ENSP00000532394.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862335.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862336.1",
"protein_id": "ENSP00000532395.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862336.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862338.1",
"protein_id": "ENSP00000532397.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862338.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862339.1",
"protein_id": "ENSP00000532398.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862339.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862340.1",
"protein_id": "ENSP00000532399.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862340.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862341.1",
"protein_id": "ENSP00000532400.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862341.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862342.1",
"protein_id": "ENSP00000532401.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862342.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862343.1",
"protein_id": "ENSP00000532402.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862343.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862344.1",
"protein_id": "ENSP00000532403.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862344.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862345.1",
"protein_id": "ENSP00000532404.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862345.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862346.1",
"protein_id": "ENSP00000532405.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862346.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862347.1",
"protein_id": "ENSP00000532406.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862347.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile",
"transcript": "ENST00000862348.1",
"protein_id": "ENSP00000532407.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 181,
"cds_start": 143,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862348.1"
},
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"canonical": false,
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"exon_count": 4,
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"biotype": "retained_intron",
"feature": "ENST00000470670.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ARF1",
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"hgvs_c": "c.*58C>T",
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"transcript": "ENST00000473546.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR3620",
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"transcript": "ENST00000584469.1",
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"biotype": "miRNA",
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},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR3620",
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"biotype": "pseudogene",
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},
{
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"upstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR3620",
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"hgvs_c": "n.-28C>T",
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"transcript": "unassigned_transcript_299",
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"biotype": "miRNA",
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},
{
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"upstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR3620",
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"hgvs_c": "n.-63C>T",
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"transcript": "unassigned_transcript_300",
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"biotype": "miRNA",
"feature": "unassigned_transcript_300"
}
],
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"dbsnp": "rs1571844539",
"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": 0.9700790643692017,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.966,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.842,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001658.4",
"gene_symbol": "ARF1",
"hgnc_id": 652,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Ile"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_037415.1",
"gene_symbol": "MIR3620",
"hgnc_id": 38917,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-6C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Periventricular nodular heterotopia 8",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Periventricular nodular heterotopia 8",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}