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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: 5-141978487-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141978487&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141978487,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004290.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "NM_004290.5",
"protein_id": "NP_004281.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394520.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004290.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000394520.7",
"protein_id": "ENSP00000378028.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004290.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394520.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000356143.5",
"protein_id": "ENSP00000348462.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356143.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000394519.5",
"protein_id": "ENSP00000378027.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394519.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "NM_001201365.2",
"protein_id": "NP_001188294.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201365.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "NM_183399.3",
"protein_id": "NP_899646.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183399.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "NM_183400.3",
"protein_id": "NP_899647.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183400.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "NM_183401.3",
"protein_id": "NP_899648.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183401.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000347642.7",
"protein_id": "ENSP00000324956.3",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347642.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905398.1",
"protein_id": "ENSP00000575457.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905398.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905399.1",
"protein_id": "ENSP00000575458.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905399.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905408.1",
"protein_id": "ENSP00000575467.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905408.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905412.1",
"protein_id": "ENSP00000575471.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905412.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905413.1",
"protein_id": "ENSP00000575472.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905413.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905414.1",
"protein_id": "ENSP00000575473.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905414.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000905415.1",
"protein_id": "ENSP00000575474.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905415.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000939446.1",
"protein_id": "ENSP00000609505.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939446.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000939447.1",
"protein_id": "ENSP00000609506.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939447.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000939448.1",
"protein_id": "ENSP00000609507.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939448.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000939449.1",
"protein_id": "ENSP00000609508.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939449.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000963025.1",
"protein_id": "ENSP00000633084.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963025.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser",
"transcript": "ENST00000963026.1",
"protein_id": "ENSP00000633085.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 474,
"cds_start": 491,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963026.1"
},
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"hgvs_c": "c.307-1636A>G",
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"transcript": "XM_047417910.1",
"protein_id": "XP_047273866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417910.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "n.409A>G",
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"transcript": "ENST00000502341.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000502341.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "n.408-1636A>G",
"hgvs_p": null,
"transcript": "ENST00000514620.5",
"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": "ENST00000514620.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "n.155-1636A>G",
"hgvs_p": null,
"transcript": "ENST00000515613.5",
"protein_id": "ENSP00000422650.1",
"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": "ENST00000515613.5"
},
{
"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": "ENSG00000254099",
"gene_hgnc_id": null,
"hgvs_c": "n.156+3115T>C",
"hgvs_p": null,
"transcript": "ENST00000520882.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000520882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.*93A>G",
"hgvs_p": null,
"transcript": "ENST00000506822.5",
"protein_id": "ENSP00000423273.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506822.5"
}
],
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"dbsnp": "rs1007633711",
"frequency_reference_population": 0.0000055759388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478842,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08328858017921448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.0556,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.002,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004290.5",
"gene_symbol": "RNF14",
"hgnc_id": 10058,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Asn164Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000520882.1",
"gene_symbol": "ENSG00000254099",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.156+3115T>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
}