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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: 6-36200348-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36200348&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36200348,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015695.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "NM_015695.3",
"protein_id": "NP_056510.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": "ENST00000357641.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015695.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000357641.10",
"protein_id": "ENSP00000350267.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": "NM_015695.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357641.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926626.1",
"protein_id": "ENSP00000596685.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926626.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926627.1",
"protein_id": "ENSP00000596686.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926627.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000968964.1",
"protein_id": "ENSP00000639023.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968964.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926624.1",
"protein_id": "ENSP00000596683.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1190,
"cds_start": 26,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926624.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926623.1",
"protein_id": "ENSP00000596682.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926623.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000534400.5",
"protein_id": "ENSP00000436504.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 1106,
"cds_start": 26,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534400.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926629.1",
"protein_id": "ENSP00000596688.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1088,
"cds_start": 26,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926629.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000968965.1",
"protein_id": "ENSP00000639024.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1088,
"cds_start": 26,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968965.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926625.1",
"protein_id": "ENSP00000596684.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1036,
"cds_start": 26,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926625.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000339717.11",
"protein_id": "ENSP00000345419.7",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 935,
"cds_start": 26,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339717.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000926628.1",
"protein_id": "ENSP00000596687.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 935,
"cds_start": 26,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926628.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000534694.5",
"protein_id": "ENSP00000434501.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 871,
"cds_start": 26,
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"cdna_start": 57,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534694.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000454960.1",
"protein_id": "ENSP00000413655.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 128,
"cds_start": 26,
"cds_end": null,
"cds_length": 387,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454960.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "ENST00000446974.1",
"protein_id": "ENSP00000410669.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 94,
"cds_start": 26,
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"cds_length": 286,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446974.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_047418649.1",
"protein_id": "XP_047274605.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1205,
"cds_start": 26,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418649.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_011514490.2",
"protein_id": "XP_011512792.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1144,
"cds_start": 26,
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"cdna_start": 87,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011514490.2"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_011514491.2",
"protein_id": "XP_011512793.1",
"transcript_support_level": null,
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"cds_start": 26,
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"cdna_start": 87,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514491.2"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_047418650.1",
"protein_id": "XP_047274606.1",
"transcript_support_level": null,
"aa_start": 9,
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"cdna_start": 87,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418650.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_011514492.2",
"protein_id": "XP_011512794.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 832,
"cds_start": 26,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514492.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Arg9Pro",
"transcript": "XM_047418651.1",
"protein_id": "XP_047274607.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 626,
"cds_start": 26,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418651.1"
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.726,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015695.3",
"gene_symbol": "BRPF3",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Arg9Pro"
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"gene_symbol": "BRPF3-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.82+523C>G",
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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
}