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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: 17-48567980-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48567980&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48567980,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000498678.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-247+5857A>G",
"hgvs_p": null,
"transcript": "NM_001384749.1",
"protein_id": "NP_001371678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "ENST00000498678.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-247+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000498678.6",
"protein_id": "ENSP00000420595.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "NM_001384749.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-247+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000311626.8",
"protein_id": "ENSP00000308252.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-13-15493A>G",
"hgvs_p": null,
"transcript": "ENST00000476342.1",
"protein_id": "ENSP00000418892.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.49+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000490677.1",
"protein_id": "ENSP00000449977.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-3300A>G",
"hgvs_p": null,
"transcript": "XM_017024560.2",
"protein_id": "XP_016880049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-3300A>G",
"hgvs_p": null,
"transcript": "XM_047435899.1",
"protein_id": "XP_047291855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-3300A>G",
"hgvs_p": null,
"transcript": "XM_047435900.1",
"protein_id": "XP_047291856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-3300A>G",
"hgvs_p": null,
"transcript": "XM_047435901.1",
"protein_id": "XP_047291857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-13-15493A>G",
"hgvs_p": null,
"transcript": "NM_001384747.1",
"protein_id": "NP_001371676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-247+5857A>G",
"hgvs_p": null,
"transcript": "NM_002146.4",
"protein_id": "NP_002137.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-194+5857A>G",
"hgvs_p": null,
"transcript": "NM_001330322.2",
"protein_id": "NP_001317251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-193-12362A>G",
"hgvs_p": null,
"transcript": "NM_001384750.1",
"protein_id": "NP_001371679.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 358,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-193-12362A>G",
"hgvs_p": null,
"transcript": "ENST00000472863.5",
"protein_id": "ENSP00000419676.1",
"transcript_support_level": 2,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-194+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000489475.5",
"protein_id": "ENSP00000418729.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-101+5857A>G",
"hgvs_p": null,
"transcript": "NM_001330323.1",
"protein_id": "NP_001317252.1",
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},
{
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],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-101+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000460160.5",
"protein_id": "ENSP00000418035.1",
"transcript_support_level": 5,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.49+5857A>G",
"hgvs_p": null,
"transcript": "ENST00000465120.3",
"protein_id": "ENSP00000446783.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HOXB-AS3",
"gene_hgnc_id": 40283,
"hgvs_c": "n.77+18034T>C",
"hgvs_p": null,
"transcript": "ENST00000465846.6",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HOXB3",
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"hgvs_c": "c.-2455+5857A>G",
"hgvs_p": null,
"transcript": "XM_024450737.2",
"protein_id": "XP_024306505.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "HOXB3",
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"hgvs_c": "c.-3145+992A>G",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-3145+5857A>G",
"hgvs_p": null,
"transcript": "XM_047435904.1",
"protein_id": "XP_047291860.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 430,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.-194+5857A>G",
"hgvs_p": null,
"transcript": "XM_047435907.1",
"protein_id": "XP_047291863.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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{
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],
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"gnomad_genomes_ac": 129501,
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000498678.6",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000465846.6",
"gene_symbol": "HOXB-AS3",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.77+18034T>C",
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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
}