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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: 9-122849761-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122849761&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122849761,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001100588.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "NM_001100588.3",
"protein_id": "NP_001094058.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357244.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100588.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "ENST00000357244.7",
"protein_id": "ENSP00000349783.2",
"transcript_support_level": 5,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100588.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357244.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "ENST00000373670.5",
"protein_id": "ENSP00000362774.1",
"transcript_support_level": 5,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373670.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "ENST00000954280.1",
"protein_id": "ENSP00000624339.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954280.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "ENST00000954288.1",
"protein_id": "ENSP00000624347.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954288.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val",
"transcript": "ENST00000954289.1",
"protein_id": "ENSP00000624348.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954289.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000915905.1",
"protein_id": "ENSP00000585964.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915905.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000954276.1",
"protein_id": "ENSP00000624335.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954276.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000954278.1",
"protein_id": "ENSP00000624337.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954278.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000954284.1",
"protein_id": "ENSP00000624343.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954284.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000954287.1",
"protein_id": "ENSP00000624346.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954287.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3328A>G",
"hgvs_p": "p.Ile1110Val",
"transcript": "NM_001354482.2",
"protein_id": "NP_001341411.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354482.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3328A>G",
"hgvs_p": "p.Ile1110Val",
"transcript": "ENST00000885804.1",
"protein_id": "ENSP00000555863.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885804.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3271A>G",
"hgvs_p": "p.Ile1091Val",
"transcript": "NM_001354479.2",
"protein_id": "NP_001341408.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354479.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3271A>G",
"hgvs_p": "p.Ile1091Val",
"transcript": "ENST00000915904.1",
"protein_id": "ENSP00000585963.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915904.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3208A>G",
"hgvs_p": "p.Ile1070Val",
"transcript": "ENST00000954282.1",
"protein_id": "ENSP00000624341.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954282.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3202A>G",
"hgvs_p": "p.Ile1068Val",
"transcript": "ENST00000915902.1",
"protein_id": "ENSP00000585961.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915902.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3157A>G",
"hgvs_p": "p.Ile1053Val",
"transcript": "ENST00000954286.1",
"protein_id": "ENSP00000624345.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1096,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954286.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.3133A>G",
"hgvs_p": "p.Ile1045Val",
"transcript": "ENST00000915903.1",
"protein_id": "ENSP00000585962.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.*33A>G",
"hgvs_p": null,
"transcript": "NM_001354478.2",
"protein_id": "NP_001341407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354478.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.*33A>G",
"hgvs_p": null,
"transcript": "ENST00000454740.5",
"protein_id": "ENSP00000398081.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454740.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "n.*1923A>G",
"hgvs_p": null,
"transcript": "ENST00000498479.5",
"protein_id": "ENSP00000474709.1",
"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": "ENST00000498479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "n.*1923A>G",
"hgvs_p": null,
"transcript": "ENST00000498479.5",
"protein_id": "ENSP00000474709.1",
"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": "ENST00000498479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "n.*38A>G",
"hgvs_p": null,
"transcript": "ENST00000495727.2",
"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": "retained_intron",
"feature": "ENST00000495727.2"
}
],
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"dbsnp": "rs201440012",
"frequency_reference_population": 0.0001101101,
"hom_count_reference_population": 0,
"allele_count_reference_population": 177,
"gnomad_exomes_af": 0.000114748,
"gnomad_genomes_af": 0.0000657367,
"gnomad_exomes_ac": 167,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026056408882141113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0565,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.474,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001100588.3",
"gene_symbol": "RC3H2",
"hgnc_id": 21461,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3442A>G",
"hgvs_p": "p.Ile1148Val"
}
],
"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
}