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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: 2-239082174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239082174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239082174,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000543185.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "NM_001378414.1",
"protein_id": "NP_001365343.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 8461,
"mane_select": "ENST00000543185.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "ENST00000543185.6",
"protein_id": "ENSP00000440481.3",
"transcript_support_level": 5,
"aa_start": 860,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 8461,
"mane_select": "NM_001378414.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "ENST00000345617.7",
"protein_id": "ENSP00000264606.3",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 8976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "NM_001378415.1",
"protein_id": "NP_001365344.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "NM_001378416.1",
"protein_id": "NP_001365345.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 8446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "NM_001378417.1",
"protein_id": "NP_001365346.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "NM_006037.4",
"protein_id": "NP_006028.2",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 9047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2499C>T",
"hgvs_p": "p.Pro833Pro",
"transcript": "NM_001435991.1",
"protein_id": "NP_001422920.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2499,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 8437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2499C>T",
"hgvs_p": "p.Pro833Pro",
"transcript": "NM_001435992.1",
"protein_id": "NP_001422921.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2499,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 8351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Pro807Pro",
"transcript": "NM_001435993.1",
"protein_id": "NP_001422922.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 8264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2652C>T",
"hgvs_p": "p.Pro884Pro",
"transcript": "XM_011512217.3",
"protein_id": "XP_011510519.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2652,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 8850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2637C>T",
"hgvs_p": "p.Pro879Pro",
"transcript": "XM_006712877.4",
"protein_id": "XP_006712940.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2637C>T",
"hgvs_p": "p.Pro879Pro",
"transcript": "XM_011512218.3",
"protein_id": "XP_011510520.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2637,
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"cds_length": 3327,
"cdna_start": 3216,
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"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2622C>T",
"hgvs_p": "p.Pro874Pro",
"transcript": "XM_011512219.3",
"protein_id": "XP_011510521.1",
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"cds_start": 2622,
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"cdna_start": 3201,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2583C>T",
"hgvs_p": "p.Pro861Pro",
"transcript": "XM_011512220.3",
"protein_id": "XP_011510522.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2583,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 3636,
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"cdna_length": 9255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "XM_011512222.4",
"protein_id": "XP_011510524.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "XM_011512223.3",
"protein_id": "XP_011510525.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2580,
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"cdna_start": 3128,
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"cdna_length": 8747,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro",
"transcript": "XM_047446476.1",
"protein_id": "XP_047302432.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2580,
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"cdna_start": 29610,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2568C>T",
"hgvs_p": "p.Pro856Pro",
"transcript": "XM_047446477.1",
"protein_id": "XP_047302433.1",
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},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2568C>T",
"hgvs_p": "p.Pro856Pro",
"transcript": "XM_047446478.1",
"protein_id": "XP_047302434.1",
"transcript_support_level": null,
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},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "XM_011512224.3",
"protein_id": "XP_011510526.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
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"cdna_start": 2923,
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"cdna_length": 8542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Pro855Pro",
"transcript": "XM_047446479.1",
"protein_id": "XP_047302435.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2565,
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"cdna_start": 3113,
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"cdna_length": 8732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
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"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.594C>T",
"hgvs_p": null,
"transcript": "ENST00000690129.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"dbsnp": "rs1063639",
"frequency_reference_population": 0.48969275,
"hom_count_reference_population": 197016,
"allele_count_reference_population": 790274,
"gnomad_exomes_af": 0.486623,
"gnomad_genomes_af": 0.5192,
"gnomad_exomes_ac": 711312,
"gnomad_genomes_ac": 78962,
"gnomad_exomes_homalt": 176246,
"gnomad_genomes_homalt": 20770,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"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": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.073,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000543185.6",
"gene_symbol": "HDAC4",
"hgnc_id": 14063,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Pro860Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}