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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: 17-35016418-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35016418&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35016418,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001017368.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "NM_001017368.2",
"protein_id": "NP_001017368.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394597.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017368.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000394597.7",
"protein_id": "ENSP00000378096.3",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017368.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394597.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "ENST00000593039.5",
"protein_id": "ENSP00000466834.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 272,
"cds_start": 589,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593039.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000948502.1",
"protein_id": "ENSP00000618561.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 838,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948502.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Glu281Gln",
"transcript": "ENST00000910974.1",
"protein_id": "ENSP00000581033.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 364,
"cds_start": 841,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910974.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Glu281Gln",
"transcript": "ENST00000910990.1",
"protein_id": "ENSP00000581049.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 364,
"cds_start": 841,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910990.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000315249.11",
"protein_id": "ENSP00000326170.7",
"transcript_support_level": 2,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315249.11"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000415395.6",
"protein_id": "ENSP00000412322.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415395.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000447669.6",
"protein_id": "ENSP00000389832.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447669.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910977.1",
"protein_id": "ENSP00000581036.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910977.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910979.1",
"protein_id": "ENSP00000581038.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910979.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910981.1",
"protein_id": "ENSP00000581040.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910981.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910982.1",
"protein_id": "ENSP00000581041.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910982.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910983.1",
"protein_id": "ENSP00000581042.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910983.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910988.1",
"protein_id": "ENSP00000581047.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910988.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000932382.1",
"protein_id": "ENSP00000602441.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932382.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000948498.1",
"protein_id": "ENSP00000618557.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948498.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000948499.1",
"protein_id": "ENSP00000618558.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 363,
"cds_start": 838,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948499.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Glu279Gln",
"transcript": "ENST00000910975.1",
"protein_id": "ENSP00000581034.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 362,
"cds_start": 835,
"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": "ENST00000910975.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Glu281Gln",
"transcript": "ENST00000932381.1",
"protein_id": "ENSP00000602440.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 356,
"cds_start": 841,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932381.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000413582.6",
"protein_id": "ENSP00000408513.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 355,
"cds_start": 838,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413582.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln",
"transcript": "ENST00000910973.1",
"protein_id": "ENSP00000581032.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 355,
"cds_start": 838,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "NR_037714.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.*151G>C",
"hgvs_p": null,
"transcript": "ENST00000591723.5",
"protein_id": "ENSP00000467986.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591723.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"hgvs_c": "c.*44G>C",
"hgvs_p": null,
"transcript": "ENST00000582308.1",
"protein_id": "ENSP00000462499.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582308.1"
}
],
"gene_symbol": "RFFL",
"gene_hgnc_id": 24821,
"dbsnp": null,
"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": 0.6034234166145325,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.7488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001017368.2",
"gene_symbol": "RFFL",
"hgnc_id": 24821,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Glu280Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593039.5",
"gene_symbol": "ENSG00000267618",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037714.1",
"gene_symbol": "RAD51L3-RFFL",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.818G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}