← 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: 1-44649887-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44649887&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44649887,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001376486.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "NM_018150.4",
"protein_id": "NP_060620.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361799.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018150.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "ENST00000361799.7",
"protein_id": "ENSP00000354872.2",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018150.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361799.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "ENST00000355387.6",
"protein_id": "ENSP00000347548.2",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355387.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "NM_001376486.1",
"protein_id": "NP_001363415.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376486.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "NM_001376487.1",
"protein_id": "NP_001363416.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376487.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1562C>G",
"hgvs_p": "p.Ser521Trp",
"transcript": "ENST00000925767.1",
"protein_id": "ENSP00000595826.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 567,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925767.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "NM_001319956.1",
"protein_id": "NP_001306885.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319956.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "NM_001376488.1",
"protein_id": "NP_001363417.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376488.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Ser307Trp",
"transcript": "NM_001319957.2",
"protein_id": "NP_001306886.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 353,
"cds_start": 920,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319957.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.785C>G",
"hgvs_p": "p.Ser262Trp",
"transcript": "NM_001376489.1",
"protein_id": "NP_001363418.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 308,
"cds_start": 785,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376489.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ser236Trp",
"transcript": "ENST00000440132.2",
"protein_id": "ENSP00000388533.2",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 258,
"cds_start": 707,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440132.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_011541698.3",
"protein_id": "XP_011540000.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541698.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_011541699.2",
"protein_id": "XP_011540001.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541699.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_011541700.2",
"protein_id": "XP_011540002.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541700.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_047424269.1",
"protein_id": "XP_047280225.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424269.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_047424277.1",
"protein_id": "XP_047280233.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424277.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp",
"transcript": "XM_047424280.1",
"protein_id": "XP_047280236.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 592,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424280.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.1559C>G",
"hgvs_p": "p.Ser520Trp",
"transcript": "XM_017001625.3",
"protein_id": "XP_016857114.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 566,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001625.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Ser307Trp",
"transcript": "XM_047424281.1",
"protein_id": "XP_047280237.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 353,
"cds_start": 920,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424281.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ser236Trp",
"transcript": "XM_047424282.1",
"protein_id": "XP_047280238.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 282,
"cds_start": 707,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424282.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM53",
"gene_hgnc_id": 26186,
"hgvs_c": "c.454-4423G>C",
"hgvs_p": null,
"transcript": "ENST00000372242.7",
"protein_id": "ENSP00000361316.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372242.7"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM53",
"gene_hgnc_id": 26186,
"hgvs_c": "c.184-4423G>C",
"hgvs_p": null,
"transcript": "ENST00000372243.7",
"protein_id": "ENSP00000361317.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372243.7"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM53",
"gene_hgnc_id": 26186,
"hgvs_c": "c.62-4423G>C",
"hgvs_p": null,
"transcript": "ENST00000372244.3",
"protein_id": "ENSP00000361318.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372244.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.898C>G",
"hgvs_p": null,
"transcript": "ENST00000474064.5",
"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": "ENST00000474064.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.553C>G",
"hgvs_p": null,
"transcript": "ENST00000474394.5",
"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": "ENST00000474394.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.1467C>G",
"hgvs_p": null,
"transcript": "ENST00000474956.1",
"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": "ENST00000474956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.741C>G",
"hgvs_p": null,
"transcript": "ENST00000475378.5",
"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": "ENST00000475378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.1999C>G",
"hgvs_p": null,
"transcript": "ENST00000480686.5",
"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": "ENST00000480686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "n.861C>G",
"hgvs_p": null,
"transcript": "ENST00000484745.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000484745.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM53",
"gene_hgnc_id": 26186,
"hgvs_c": "n.137-13430G>C",
"hgvs_p": null,
"transcript": "ENST00000495630.1",
"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": "ENST00000495630.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.*118C>G",
"hgvs_p": null,
"transcript": "ENST00000335497.11",
"protein_id": "ENSP00000335580.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335497.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107984950",
"gene_hgnc_id": null,
"hgvs_c": "n.-221G>C",
"hgvs_p": null,
"transcript": "XR_001738031.2",
"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": "XR_001738031.2"
}
],
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"dbsnp": "rs1367860884",
"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": 0.694183886051178,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.748,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8318,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.556,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376486.1",
"gene_symbol": "RNF220",
"hgnc_id": 25552,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372243.7",
"gene_symbol": "TMEM53",
"hgnc_id": 26186,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.184-4423G>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001738031.2",
"gene_symbol": "LOC107984950",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-221G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}