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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: 16-27364896-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27364896&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27364896,
"ref": "A",
"alt": "T",
"effect": "downstream_gene_variant",
"transcript": "NM_000418.4",
"consequences": [
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000418.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000418.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395762.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543915.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000912076.1",
"protein_id": "ENSP00000582135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": null,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912076.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257406.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856359.1",
"protein_id": "ENSP00000526418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856359.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856360.1",
"protein_id": "ENSP00000526419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856360.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856361.1",
"protein_id": "ENSP00000526420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856361.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856362.1",
"protein_id": "ENSP00000526421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856362.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856363.1",
"protein_id": "ENSP00000526422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856363.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856364.1",
"protein_id": "ENSP00000526423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856364.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856365.1",
"protein_id": "ENSP00000526424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856365.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856366.1",
"protein_id": "ENSP00000526425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856366.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856367.1",
"protein_id": "ENSP00000526426.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856367.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856368.1",
"protein_id": "ENSP00000526427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856368.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856369.1",
"protein_id": "ENSP00000526428.1",
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"cds_start": 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": "ENST00000856369.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856370.1",
"protein_id": "ENSP00000526429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cds_length": 2478,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856370.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856372.1",
"protein_id": "ENSP00000526431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856372.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856373.1",
"protein_id": "ENSP00000526432.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000856373.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856374.1",
"protein_id": "ENSP00000526433.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856374.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856375.1",
"protein_id": "ENSP00000526434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856375.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*1066A>T",
"hgvs_p": null,
"transcript": "ENST00000856376.1",
"protein_id": "ENSP00000526435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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{
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"transcript": "XM_017023211.2",
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],
"gene_symbol": "IL4R",
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"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000418.4",
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*1066A>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}