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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: 10-102352496-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102352496&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102352496,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001411027.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001377137.1",
"protein_id": "NP_001364066.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1860,
"cds_start": 562,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369983.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377137.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000369983.5",
"protein_id": "ENSP00000359000.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 1860,
"cds_start": 562,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377137.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369983.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001411027.1",
"protein_id": "NP_001397956.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1892,
"cds_start": 562,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411027.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000673650.1",
"protein_id": "ENSP00000501233.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1892,
"cds_start": 562,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673650.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001391922.1",
"protein_id": "NP_001378851.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1888,
"cds_start": 562,
"cds_end": null,
"cds_length": 5667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391922.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001411003.1",
"protein_id": "NP_001397932.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1884,
"cds_start": 562,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411003.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000674034.1",
"protein_id": "ENSP00000501064.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1884,
"cds_start": 562,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674034.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000871605.1",
"protein_id": "ENSP00000541664.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1880,
"cds_start": 562,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871605.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000965494.1",
"protein_id": "ENSP00000635553.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1879,
"cds_start": 562,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965494.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000871606.1",
"protein_id": "ENSP00000541665.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1876,
"cds_start": 562,
"cds_end": null,
"cds_length": 5631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871606.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000871608.1",
"protein_id": "ENSP00000541667.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1860,
"cds_start": 562,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871608.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001377141.1",
"protein_id": "NP_001364070.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1859,
"cds_start": 562,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377141.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_004193.3",
"protein_id": "NP_004184.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1859,
"cds_start": 562,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004193.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000676513.1",
"protein_id": "ENSP00000503207.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1859,
"cds_start": 562,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676513.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000676939.1",
"protein_id": "ENSP00000503981.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1859,
"cds_start": 562,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676939.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001199378.2",
"protein_id": "NP_001186307.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1856,
"cds_start": 562,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199378.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001391923.1",
"protein_id": "NP_001378852.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1856,
"cds_start": 562,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391923.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000677240.1",
"protein_id": "ENSP00000503428.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1856,
"cds_start": 562,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677240.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001199379.2",
"protein_id": "NP_001186308.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1855,
"cds_start": 562,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199379.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "NM_001391924.1",
"protein_id": "NP_001378853.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1855,
"cds_start": 562,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391924.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000676993.1",
"protein_id": "ENSP00000503918.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1855,
"cds_start": 562,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676993.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val",
"transcript": "ENST00000871607.1",
"protein_id": "ENSP00000541666.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1855,
"cds_start": 562,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871607.1"
},
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 28,
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"transcript": "XR_001747253.3",
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"biotype": "pseudogene",
"feature": "XR_001747253.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.*162A>G",
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"transcript": "ENST00000677838.1",
"protein_id": "ENSP00000503137.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677838.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 39,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.523+545A>G",
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"transcript": "ENST00000676682.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676682.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 6,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.783+545A>G",
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"transcript": "NR_165087.1",
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165087.1"
}
],
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"dbsnp": "rs1467300528",
"frequency_reference_population": 0.000006203351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000616514,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7835782766342163,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.501,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8055,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.255,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001411027.1",
"gene_symbol": "GBF1",
"hgnc_id": 4181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Met188Val"
}
],
"clinvar_disease": " axonal, type 2GG,Charcot-Marie-Tooth Disease,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Charcot-Marie-Tooth Disease, axonal, type 2GG",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}