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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: 19-572645-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=572645&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 572645,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001728.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "NM_001728.4",
"protein_id": "NP_001719.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 385,
"cds_start": 11,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333511.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001728.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000333511.9",
"protein_id": "ENSP00000333769.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 385,
"cds_start": 11,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001728.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333511.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000353555.9",
"protein_id": "ENSP00000343809.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353555.9"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-56+1066C>T",
"hgvs_p": null,
"transcript": "ENST00000346916.9",
"protein_id": "ENSP00000344707.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346916.9"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-213+1066C>T",
"hgvs_p": null,
"transcript": "ENST00000545507.6",
"protein_id": "ENSP00000473664.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545507.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952323.1",
"protein_id": "ENSP00000622382.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 385,
"cds_start": 11,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952323.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "NM_001322243.2",
"protein_id": "NP_001309172.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322243.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "NM_198589.3",
"protein_id": "NP_940991.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198589.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952320.1",
"protein_id": "ENSP00000622379.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952320.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952321.1",
"protein_id": "ENSP00000622380.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952321.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952325.1",
"protein_id": "ENSP00000622384.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 269,
"cds_start": 11,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952325.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000680326.1",
"protein_id": "ENSP00000505863.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 266,
"cds_start": 11,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680326.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000680552.1",
"protein_id": "ENSP00000506321.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 266,
"cds_start": 11,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680552.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952324.1",
"protein_id": "ENSP00000622383.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 253,
"cds_start": 11,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952324.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000952322.1",
"protein_id": "ENSP00000622381.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 207,
"cds_start": 11,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952322.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000618006.4",
"protein_id": "ENSP00000478958.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 189,
"cds_start": 11,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618006.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000573216.5",
"protein_id": "ENSP00000458665.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 159,
"cds_start": 11,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573216.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000614867.2",
"protein_id": "ENSP00000484624.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 55,
"cds_start": 11,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614867.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-269C>T",
"hgvs_p": null,
"transcript": "ENST00000679472.1",
"protein_id": "ENSP00000505067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-269C>T",
"hgvs_p": null,
"transcript": "ENST00000680065.1",
"protein_id": "ENSP00000506020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680065.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-213+1066C>T",
"hgvs_p": null,
"transcript": "NM_198590.3",
"protein_id": "NP_940992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198590.3"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BSG",
"gene_hgnc_id": 1116,
"hgvs_c": "c.-56+1066C>T",
"hgvs_p": null,
"transcript": "NM_198591.4",
"protein_id": "NP_940993.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198591.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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{
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{
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{
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"strand": true,
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{
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"gene_symbol": "BSG-AS1",
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"biotype": "pseudogene",
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.14709606766700745,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1222,
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.62,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001728.4",
"gene_symbol": "BSG",
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"effects": [
"missense_variant"
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"inheritance_mode": "BG",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588290.4",
"gene_symbol": "BSG-AS1",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-241G>A",
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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
}