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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: 20-63708894-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63708894&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63708894,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032527.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_181485.3",
"protein_id": "NP_852150.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355969.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181485.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000355969.11",
"protein_id": "ENSP00000348242.6",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181485.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355969.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000448100.6",
"protein_id": "ENSP00000391176.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448100.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000357119.8",
"protein_id": "ENSP00000349634.4",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 502,
"cds_start": 314,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357119.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000939520.1",
"protein_id": "ENSP00000609579.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 540,
"cds_start": 314,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939520.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_032527.5",
"protein_id": "NP_115916.3",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 531,
"cds_start": 314,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032527.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000328969.5",
"protein_id": "ENSP00000332013.5",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 531,
"cds_start": 314,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328969.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878102.1",
"protein_id": "ENSP00000548161.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 531,
"cds_start": 314,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878102.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000964255.1",
"protein_id": "ENSP00000634314.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 531,
"cds_start": 314,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964255.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000964256.1",
"protein_id": "ENSP00000634315.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 531,
"cds_start": 314,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964256.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878100.1",
"protein_id": "ENSP00000548159.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 523,
"cds_start": 314,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878100.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878103.1",
"protein_id": "ENSP00000548162.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 523,
"cds_start": 314,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878103.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878106.1",
"protein_id": "ENSP00000548165.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 523,
"cds_start": 314,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878106.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878104.1",
"protein_id": "ENSP00000548163.1",
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"aa_start": 105,
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"cds_start": 314,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878104.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878105.1",
"protein_id": "ENSP00000548164.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 522,
"cds_start": 314,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878105.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001083113.2",
"protein_id": "NP_001076582.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083113.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001195653.2",
"protein_id": "NP_001182582.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195653.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000369967.7",
"protein_id": "ENSP00000358984.3",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369967.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878098.1",
"protein_id": "ENSP00000548157.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
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"cds_start": 314,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878098.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000878107.1",
"protein_id": "ENSP00000548166.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 314,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878107.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000939521.1",
"protein_id": "ENSP00000609580.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 511,
"cds_start": 314,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939521.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGPAT",
"gene_hgnc_id": 15948,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001195654.2",
"protein_id": "NP_001182583.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 502,
"cds_start": 314,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195654.2"
},
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],
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"computational_score_selected": 0.06948888301849365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.34,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032527.5",
"gene_symbol": "ZGPAT",
"hgnc_id": 15948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000490623.3",
"gene_symbol": "ENSG00000273154",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.29C>T",
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},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000878282.1",
"gene_symbol": "ARFRP1",
"hgnc_id": 662,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.-276G>A",
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}
],
"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
}