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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: 16-74624015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74624015&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74624015,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018124.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "NM_018124.4",
"protein_id": "NP_060594.3",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361070.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018124.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000361070.9",
"protein_id": "ENSP00000354361.4",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018124.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361070.9"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "NM_001370534.1",
"protein_id": "NP_001357463.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370534.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "NM_001370535.1",
"protein_id": "NP_001357464.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370535.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000571750.5",
"protein_id": "ENSP00000460049.1",
"transcript_support_level": 2,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571750.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938436.1",
"protein_id": "ENSP00000608495.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938436.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938438.1",
"protein_id": "ENSP00000608497.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938438.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938439.1",
"protein_id": "ENSP00000608498.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938439.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938440.1",
"protein_id": "ENSP00000608499.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938440.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938441.1",
"protein_id": "ENSP00000608500.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938441.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938442.1",
"protein_id": "ENSP00000608501.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938442.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "ENST00000938443.1",
"protein_id": "ENSP00000608502.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938443.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Val687Val",
"transcript": "NM_001370536.1",
"protein_id": "NP_001357465.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 715,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370536.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Val687Val",
"transcript": "ENST00000888023.1",
"protein_id": "ENSP00000558082.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 715,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888023.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Val687Val",
"transcript": "ENST00000938437.1",
"protein_id": "ENSP00000608496.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 715,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938437.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Val468Val",
"transcript": "NM_001370537.1",
"protein_id": "NP_001357466.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 496,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370537.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Val468Val",
"transcript": "NM_001370539.1",
"protein_id": "NP_001357468.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 496,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370539.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Val468Val",
"transcript": "NM_001370540.1",
"protein_id": "NP_001357469.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 496,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370540.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Val468Val",
"transcript": "NM_001370542.1",
"protein_id": "NP_001357471.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 496,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370542.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Val468Val",
"transcript": "NM_001370543.1",
"protein_id": "NP_001357472.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 496,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370543.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "XM_005256022.5",
"protein_id": "XP_005256079.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256022.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFWD3",
"gene_hgnc_id": 25539,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Val746Val",
"transcript": "XM_011523191.4",
"protein_id": "XP_011521493.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
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"cdna_start": null,
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{
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{
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{
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],
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"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.55,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018124.4",
"gene_symbol": "RFWD3",
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"effects": [
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],
"inheritance_mode": "AR,Unknown",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}