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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: X-47089791-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47089791&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47089791,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004683.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "NM_152869.4",
"protein_id": "NP_690608.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397180.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152869.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000397180.6",
"protein_id": "ENSP00000380365.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152869.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397180.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000336169.3",
"protein_id": "ENSP00000338400.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336169.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000352078.8",
"protein_id": "ENSP00000253303.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352078.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "ENST00000457380.5",
"protein_id": "ENSP00000406568.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457380.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "NM_004683.6",
"protein_id": "NP_004674.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004683.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899539.1",
"protein_id": "ENSP00000569598.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899539.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899542.1",
"protein_id": "ENSP00000569601.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899542.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899543.1",
"protein_id": "ENSP00000569602.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899543.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899546.1",
"protein_id": "ENSP00000569605.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899546.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000955705.1",
"protein_id": "ENSP00000625764.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 299,
"cds_start": 362,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955705.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Glu118Gly",
"transcript": "ENST00000899550.1",
"protein_id": "ENSP00000569609.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 296,
"cds_start": 353,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899550.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Glu83Gly",
"transcript": "ENST00000899547.1",
"protein_id": "ENSP00000569606.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 261,
"cds_start": 248,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899547.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899544.1",
"protein_id": "ENSP00000569603.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 255,
"cds_start": 362,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899544.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899548.1",
"protein_id": "ENSP00000569607.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 255,
"cds_start": 362,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899548.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "ENST00000899551.1",
"protein_id": "ENSP00000569610.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 255,
"cds_start": 362,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899551.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.203A>G",
"hgvs_p": "p.Glu68Gly",
"transcript": "NM_001282848.2",
"protein_id": "NP_001269777.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 246,
"cds_start": 203,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282848.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "NM_001282849.2",
"protein_id": "NP_001269778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282849.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "ENST00000899538.1",
"protein_id": "ENSP00000569597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "ENST00000899540.1",
"protein_id": "ENSP00000569599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "ENST00000899545.1",
"protein_id": "ENSP00000569604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"hgvs_c": "c.347-1887A>G",
"hgvs_p": null,
"transcript": "ENST00000925468.1",
"protein_id": "ENSP00000595527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"feature": "ENST00000823257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000307069",
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"hgvs_c": "n.355-2373T>C",
"hgvs_p": null,
"transcript": "ENST00000823258.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000823258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307069",
"gene_hgnc_id": null,
"hgvs_c": "n.326-3076T>C",
"hgvs_p": null,
"transcript": "ENST00000823259.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000823259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307069",
"gene_hgnc_id": null,
"hgvs_c": "n.300-3076T>C",
"hgvs_p": null,
"transcript": "ENST00000823260.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000823260.1"
}
],
"gene_symbol": "RGN",
"gene_hgnc_id": 9989,
"dbsnp": "rs1428651510",
"frequency_reference_population": 0.0000027419371,
"hom_count_reference_population": 2,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000274194,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3135595917701721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.5122,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.058,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004683.6",
"gene_symbol": "RGN",
"hgnc_id": 9989,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000823242.1",
"gene_symbol": "ENSG00000307069",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.228-8544T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}