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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: 7-102070310-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=102070310&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 102070310,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001202543.2",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "NM_181552.4",
"protein_id": "NP_853530.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1505,
"cds_start": null,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292535.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181552.4"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000292535.12",
"protein_id": "ENSP00000292535.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1505,
"cds_start": null,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181552.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292535.12"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "NM_001913.5",
"protein_id": "NP_001904.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000622516.6",
"biotype": "protein_coding",
"feature": "NM_001913.5"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000622516.6",
"protein_id": "ENSP00000484760.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001913.5",
"biotype": "protein_coding",
"feature": "ENST00000622516.6"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000360264.7",
"protein_id": "ENSP00000353401.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1516,
"cds_start": null,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360264.7"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000292538.9",
"protein_id": "ENSP00000292538.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292538.9"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000437600.9",
"protein_id": "ENSP00000414091.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437600.9"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "NM_001202543.2",
"protein_id": "NP_001189472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1516,
"cds_start": null,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202543.2"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000546411.7",
"protein_id": "ENSP00000450125.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1505,
"cds_start": null,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546411.7"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000964683.1",
"protein_id": "ENSP00000634742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
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"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964683.1"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000549414.6",
"protein_id": "ENSP00000446630.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": null,
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"cds_length": 4452,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000549414.6"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 3,
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"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000645010.1",
"protein_id": "ENSP00000496653.1",
"transcript_support_level": null,
"aa_start": null,
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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": "ENST00000645010.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000550008.6",
"protein_id": "ENSP00000447373.2",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "CUX1",
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"hgvs_c": "c.190-29T>G",
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"transcript": "ENST00000935679.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "ENST00000646649.1",
"protein_id": "ENSP00000494610.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000646649.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.190-29T>G",
"hgvs_p": null,
"transcript": "ENST00000556210.1",
"protein_id": "ENSP00000451558.1",
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"biotype": "protein_coding",
"feature": "ENST00000556210.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "NM_181500.4",
"protein_id": "NP_852477.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_181500.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.175-29T>G",
"hgvs_p": null,
"transcript": "NM_001202544.3",
"protein_id": "NP_001189473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001202544.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.175-29T>G",
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"transcript": "ENST00000547394.6",
"protein_id": "ENSP00000449371.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.112-29T>G",
"hgvs_p": null,
"transcript": "NM_001202546.3",
"protein_id": "NP_001189475.1",
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.112-29T>G",
"hgvs_p": null,
"transcript": "ENST00000393824.7",
"protein_id": "ENSP00000377410.3",
"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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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393824.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.223-29T>G",
"hgvs_p": null,
"transcript": "NM_001202545.3",
"protein_id": "NP_001189474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
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"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202545.3"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000606749.1"
}
],
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"dbsnp": "rs377612",
"frequency_reference_population": 0.000004189371,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000418937,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001202543.2",
"gene_symbol": "CUX1",
"hgnc_id": 2557,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.223-29T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}