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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: 6-99561435-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99561435&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 99561435,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005190.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "NM_005190.4",
"protein_id": "NP_005181.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 283,
"cds_start": 226,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000520429.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005190.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000520429.6",
"protein_id": "ENSP00000428982.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 283,
"cds_start": 226,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520429.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000369220.8",
"protein_id": "ENSP00000358222.4",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 282,
"cds_start": 226,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369220.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000482541.2",
"protein_id": "ENSP00000417072.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 143,
"cds_start": 226,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482541.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "n.226T>G",
"hgvs_p": null,
"transcript": "ENST00000326298.8",
"protein_id": "ENSP00000319027.4",
"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": "ENST00000326298.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000930285.1",
"protein_id": "ENSP00000600344.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 292,
"cds_start": 226,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930285.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "NM_001363537.2",
"protein_id": "NP_001350466.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 282,
"cds_start": 226,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363537.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000518714.5",
"protein_id": "ENSP00000430294.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 282,
"cds_start": 226,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518714.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000520371.5",
"protein_id": "ENSP00000430381.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 282,
"cds_start": 226,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520371.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000882416.1",
"protein_id": "ENSP00000552475.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 278,
"cds_start": 226,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882416.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000882419.1",
"protein_id": "ENSP00000552478.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 271,
"cds_start": 226,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882419.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000930284.1",
"protein_id": "ENSP00000600343.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 271,
"cds_start": 226,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930284.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000930286.1",
"protein_id": "ENSP00000600345.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 226,
"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": "ENST00000930286.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000882420.1",
"protein_id": "ENSP00000552479.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 268,
"cds_start": 226,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882420.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000882415.1",
"protein_id": "ENSP00000552474.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 247,
"cds_start": 226,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882415.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Tyr22Asp",
"transcript": "ENST00000486428.6",
"protein_id": "ENSP00000430077.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 228,
"cds_start": 64,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486428.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000627680.2",
"protein_id": "ENSP00000487040.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 202,
"cds_start": 226,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627680.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "ENST00000962620.1",
"protein_id": "ENSP00000632679.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 199,
"cds_start": 226,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.-30T>G",
"hgvs_p": null,
"transcript": "NM_001013399.2",
"protein_id": "NP_001013417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013399.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.-30T>G",
"hgvs_p": null,
"transcript": "ENST00000523799.5",
"protein_id": "ENSP00000430014.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523799.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.-30T>G",
"hgvs_p": null,
"transcript": "ENST00000523985.5",
"protein_id": "ENSP00000430119.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523985.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNC",
"gene_hgnc_id": 1581,
"hgvs_c": "c.367T>G",
"hgvs_p": "p.Tyr123Asp",
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],
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"frequency_reference_population": null,
"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,
"gnomad_genomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.637190580368042,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.026000000536441803,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.131,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0086157051737524,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_005190.4",
"gene_symbol": "CCNC",
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"effects": [
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"inheritance_mode": "AD",
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NR_197367.1",
"gene_symbol": "TSTD3",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}