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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: 7-156676504-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=156676504&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 156676504,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030936.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "NM_030936.4",
"protein_id": "NP_112198.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317955.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030936.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000317955.10",
"protein_id": "ENSP00000315950.5",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030936.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317955.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000392743.6",
"protein_id": "ENSP00000376499.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392743.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000432459.6",
"protein_id": "ENSP00000405588.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432459.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.*129G>A",
"hgvs_p": null,
"transcript": "ENST00000311822.12",
"protein_id": "ENSP00000308894.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311822.12"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "NM_001184996.2",
"protein_id": "NP_001171925.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184996.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "NM_001184997.1",
"protein_id": "NP_001171926.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184997.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000405335.5",
"protein_id": "ENSP00000385285.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405335.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000886327.1",
"protein_id": "ENSP00000556386.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886327.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000886330.1",
"protein_id": "ENSP00000556389.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000886332.1",
"protein_id": "ENSP00000556391.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886332.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000886333.1",
"protein_id": "ENSP00000556392.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886333.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000886334.1",
"protein_id": "ENSP00000556393.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886334.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000886328.1",
"protein_id": "ENSP00000556387.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 349,
"cds_start": 899,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886328.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000886331.1",
"protein_id": "ENSP00000556390.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 349,
"cds_start": 899,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000972044.1",
"protein_id": "ENSP00000642103.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 349,
"cds_start": 899,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972044.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000972045.1",
"protein_id": "ENSP00000642104.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 349,
"cds_start": 899,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972045.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "ENST00000886329.1",
"protein_id": "ENSP00000556388.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 342,
"cds_start": 878,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886329.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "XM_005249522.6",
"protein_id": "XP_005249579.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249522.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "XM_011515804.4",
"protein_id": "XP_011514106.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515804.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "XM_011515805.4",
"protein_id": "XP_011514107.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515805.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "XM_011515806.4",
"protein_id": "XP_011514108.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 938,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515806.4"
},
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"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "n.4454C>T",
"hgvs_p": null,
"transcript": "XR_007060134.1",
"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": "XR_007060134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "n.4299C>T",
"hgvs_p": null,
"transcript": "XR_007060135.1",
"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": "XR_007060135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "n.5817C>T",
"hgvs_p": null,
"transcript": "XR_007060136.1",
"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": "XR_007060136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "n.3913C>T",
"hgvs_p": null,
"transcript": "XR_007060137.1",
"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": "XR_007060137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"hgvs_c": "n.*757G>A",
"hgvs_p": null,
"transcript": "ENST00000392747.6",
"protein_id": "ENSP00000376503.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000392747.6"
}
],
"gene_symbol": "RNF32",
"gene_hgnc_id": 17118,
"dbsnp": "rs770700325",
"frequency_reference_population": 0.000016110003,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000143669,
"gnomad_genomes_af": 0.0000328502,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.041862159967422485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.465,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_030936.4",
"gene_symbol": "RNF32",
"hgnc_id": 17118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000609081.1",
"gene_symbol": "LMBR1",
"hgnc_id": 13243,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "n.213C>T",
"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
}