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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: 1-46806731-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46806731&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46806731,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001099772.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "NM_001099772.2",
"protein_id": "NP_001093242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371923.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099772.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000371923.9",
"protein_id": "ENSP00000360991.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099772.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371923.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000271153.8",
"protein_id": "ENSP00000271153.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"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": "ENST00000271153.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000371919.8",
"protein_id": "ENSP00000360987.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371919.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000529715.5",
"protein_id": "ENSP00000443212.1",
"transcript_support_level": 1,
"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": "ENST00000529715.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000887999.1",
"protein_id": "ENSP00000558058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000940946.1",
"protein_id": "ENSP00000611005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "NM_000779.4",
"protein_id": "NP_000770.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"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": "NM_000779.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "NM_001319161.2",
"protein_id": "NP_001306090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319161.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000887998.1",
"protein_id": "ENSP00000558057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"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": "ENST00000887998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000888000.1",
"protein_id": "ENSP00000558059.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 486,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888000.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "CYP4B1",
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"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000888001.1",
"protein_id": "ENSP00000558060.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888001.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
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"transcript": "ENST00000888002.1",
"protein_id": "ENSP00000558061.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888002.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "CYP4B1",
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"hgvs_c": "c.181-4077G>A",
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"transcript": "ENST00000940947.1",
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"feature": "ENST00000940947.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000940944.1",
"protein_id": "ENSP00000611003.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000940944.1"
},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 9,
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"gene_symbol": "CYP4B1",
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"hgvs_c": "c.181-6751G>A",
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"transcript": "ENST00000940948.1",
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"biotype": "protein_coding",
"feature": "ENST00000940948.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-6751G>A",
"hgvs_p": null,
"transcript": "ENST00000940943.1",
"protein_id": "ENSP00000611002.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000940943.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000940945.1",
"protein_id": "ENSP00000611004.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "ENST00000940945.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
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"hgvs_c": "c.-122-5765G>A",
"hgvs_p": null,
"transcript": "NM_001319162.2",
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"biotype": "protein_coding",
"feature": "NM_001319162.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.-122-5765G>A",
"hgvs_p": null,
"transcript": "NM_001319163.2",
"protein_id": "NP_001306092.1",
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"biotype": "protein_coding",
"feature": "NM_001319163.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.181-4077G>A",
"hgvs_p": null,
"transcript": "ENST00000464439.6",
"protein_id": "ENSP00000433068.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464439.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.181-5765G>A",
"hgvs_p": null,
"transcript": "ENST00000534708.6",
"protein_id": "ENSP00000433367.2",
"transcript_support_level": 2,
"aa_start": null,
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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": "nonsense_mediated_decay",
"feature": "ENST00000534708.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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{
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"biotype": "protein_coding",
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],
"gene_symbol": "CYP4B1",
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"hom_count_reference_population": 891,
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"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.505,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001099772.2",
"gene_symbol": "CYP4B1",
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"effects": [
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"inheritance_mode": "AR",
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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
}