← Back to variant description
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: 13-26215151-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=26215151&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 26215151,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005977.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "NM_005977.4",
"protein_id": "NP_005968.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381588.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005977.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000381588.9",
"protein_id": "ENSP00000371000.4",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381588.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000346166.7",
"protein_id": "ENSP00000342121.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346166.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000381570.7",
"protein_id": "ENSP00000370982.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381570.7"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.768+323G>A",
"hgvs_p": null,
"transcript": "ENST00000468480.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000468480.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "NM_183043.3",
"protein_id": "NP_898864.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183043.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "NM_183044.3",
"protein_id": "NP_898865.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183044.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902197.1",
"protein_id": "ENSP00000572256.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902197.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902198.1",
"protein_id": "ENSP00000572257.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902198.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902201.1",
"protein_id": "ENSP00000572260.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902201.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902204.1",
"protein_id": "ENSP00000572263.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902204.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902205.1",
"protein_id": "ENSP00000572264.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902205.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000902206.1",
"protein_id": "ENSP00000572265.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902206.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000911857.1",
"protein_id": "ENSP00000581916.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911857.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000911859.1",
"protein_id": "ENSP00000581918.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911859.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000945715.1",
"protein_id": "ENSP00000615774.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945715.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000945716.1",
"protein_id": "ENSP00000615775.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945716.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000945717.1",
"protein_id": "ENSP00000615776.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945717.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000945718.1",
"protein_id": "ENSP00000615777.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945718.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "ENST00000945721.1",
"protein_id": "ENSP00000615780.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945721.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "ENST00000902199.1",
"protein_id": "ENSP00000572258.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 684,
"cds_start": 728,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902199.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "ENST00000902203.1",
"protein_id": "ENSP00000572262.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 684,
"cds_start": 728,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902203.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "ENST00000911858.1",
"protein_id": "ENSP00000581917.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 684,
"cds_start": 728,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911858.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "ENST00000945720.1",
"protein_id": "ENSP00000615779.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 684,
"cds_start": 728,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945720.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"transcript": "ENST00000902200.1",
"protein_id": "ENSP00000572259.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 680,
"cds_start": 716,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902200.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"transcript": "ENST00000902202.1",
"protein_id": "ENSP00000572261.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 680,
"cds_start": 716,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902202.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Gly229Asp",
"transcript": "ENST00000945719.1",
"protein_id": "ENSP00000615778.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 670,
"cds_start": 686,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945719.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "XM_005266485.4",
"protein_id": "XP_005266542.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266485.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "XM_005266486.3",
"protein_id": "XP_005266543.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266486.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "XM_011535177.4",
"protein_id": "XP_011533479.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535177.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp",
"transcript": "XM_024449390.2",
"protein_id": "XP_024305158.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 685,
"cds_start": 731,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449390.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "NM_183045.1",
"protein_id": "NP_898866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.44+323G>A",
"hgvs_p": null,
"transcript": "XM_047430494.1",
"protein_id": "XP_047286450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_017020685.3",
"protein_id": "XP_016876174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020685.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_017020686.2",
"protein_id": "XP_016876175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020686.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_017020687.2",
"protein_id": "XP_016876176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020687.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_024449391.2",
"protein_id": "XP_024305159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449391.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_024449392.2",
"protein_id": "XP_024305160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449392.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_047430495.1",
"protein_id": "XP_047286451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_047430496.1",
"protein_id": "XP_047286452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_011535178.3",
"protein_id": "XP_011533480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535178.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_047430498.1",
"protein_id": "XP_047286454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_047430499.1",
"protein_id": "XP_047286455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.408+323G>A",
"hgvs_p": null,
"transcript": "XM_047430500.1",
"protein_id": "XP_047286456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.843G>A",
"hgvs_p": null,
"transcript": "ENST00000498039.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000498039.5"
}
],
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"dbsnp": "rs121434524",
"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": 0.24302881956100464,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.039,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005977.4",
"gene_symbol": "RNF6",
"hgnc_id": 10069,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Gly244Asp"
}
],
"clinvar_disease": " somatic,Esophageal squamous cell carcinoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Esophageal squamous cell carcinoma, somatic",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}