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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: 8-144095871-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144095871&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144095871,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001916.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "NM_001916.5",
"protein_id": "NP_001907.3",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 325,
"cds_start": 168,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318911.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001916.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000318911.5",
"protein_id": "ENSP00000317159.4",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 325,
"cds_start": 168,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318911.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "n.833C>G",
"hgvs_p": null,
"transcript": "ENST00000533444.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000533444.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Gly82Gly",
"transcript": "ENST00000876792.1",
"protein_id": "ENSP00000546851.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 351,
"cds_start": 246,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876792.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000876797.1",
"protein_id": "ENSP00000546856.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 168,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876797.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000876794.1",
"protein_id": "ENSP00000546853.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 333,
"cds_start": 168,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876794.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000915399.1",
"protein_id": "ENSP00000585458.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 332,
"cds_start": 168,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915399.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000876793.1",
"protein_id": "ENSP00000546852.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 323,
"cds_start": 168,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876793.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000915398.1",
"protein_id": "ENSP00000585457.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 322,
"cds_start": 168,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915398.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965127.1",
"protein_id": "ENSP00000635186.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 322,
"cds_start": 168,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965127.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000876796.1",
"protein_id": "ENSP00000546855.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 309,
"cds_start": 168,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876796.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965126.1",
"protein_id": "ENSP00000635185.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 309,
"cds_start": 168,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965126.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965128.1",
"protein_id": "ENSP00000635187.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 308,
"cds_start": 168,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965128.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965129.1",
"protein_id": "ENSP00000635188.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 297,
"cds_start": 168,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965129.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965131.1",
"protein_id": "ENSP00000635190.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 293,
"cds_start": 168,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965131.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000876790.1",
"protein_id": "ENSP00000546849.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 292,
"cds_start": 69,
"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": "ENST00000876790.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly",
"transcript": "ENST00000965132.1",
"protein_id": "ENSP00000635191.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 289,
"cds_start": 168,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965132.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.194+176C>G",
"hgvs_p": null,
"transcript": "ENST00000915401.1",
"protein_id": "ENSP00000585460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915401.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.195-111C>G",
"hgvs_p": null,
"transcript": "ENST00000915402.1",
"protein_id": "ENSP00000585461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"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": "ENST00000915402.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.130-111C>G",
"hgvs_p": null,
"transcript": "ENST00000965130.1",
"protein_id": "ENSP00000635189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"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": "ENST00000965130.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.130-272C>G",
"hgvs_p": null,
"transcript": "ENST00000876795.1",
"protein_id": "ENSP00000546854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"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": "ENST00000876795.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYC1",
"gene_hgnc_id": 2579,
"hgvs_c": "c.130-466C>G",
"hgvs_p": null,
"transcript": "ENST00000876791.1",
"protein_id": "ENSP00000546850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"biotype": "protein_coding",
"feature": "ENST00000915400.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"gene_symbol": "CYC1",
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"hgvs_c": "n.386C>G",
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"transcript": "ENST00000528618.1",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528618.1"
}
],
"gene_symbol": "CYC1",
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"dbsnp": "rs775233321",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137295,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.089,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001916.5",
"gene_symbol": "CYC1",
"hgnc_id": 2579,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.168C>G",
"hgvs_p": "p.Gly56Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}