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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: 2-216138178-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216138178&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216138178,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_021141.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "NM_021141.4",
"protein_id": "NP_066964.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 732,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392132.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021141.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000392132.7",
"protein_id": "ENSP00000375977.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 732,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392132.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.1883C>G",
"hgvs_p": null,
"transcript": "ENST00000460284.5",
"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": "ENST00000460284.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000947464.1",
"protein_id": "ENSP00000617523.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 754,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947464.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000939185.1",
"protein_id": "ENSP00000609244.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 740,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1365C>G",
"hgvs_p": "p.Thr455Thr",
"transcript": "ENST00000947463.1",
"protein_id": "ENSP00000617522.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 740,
"cds_start": 1365,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947463.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000392133.7",
"protein_id": "ENSP00000375978.3",
"transcript_support_level": 5,
"aa_start": 447,
"aa_end": null,
"aa_length": 732,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392133.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000939180.1",
"protein_id": "ENSP00000609239.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 732,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939180.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000939184.1",
"protein_id": "ENSP00000609243.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 732,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939184.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Thr445Thr",
"transcript": "ENST00000939181.1",
"protein_id": "ENSP00000609240.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 730,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939181.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Thr444Thr",
"transcript": "ENST00000893695.1",
"protein_id": "ENSP00000563754.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 729,
"cds_start": 1332,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893695.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1329C>G",
"hgvs_p": "p.Thr443Thr",
"transcript": "ENST00000939183.1",
"protein_id": "ENSP00000609242.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 728,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939183.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000893697.1",
"protein_id": "ENSP00000563756.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 724,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893697.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1245C>G",
"hgvs_p": "p.Thr415Thr",
"transcript": "ENST00000947465.1",
"protein_id": "ENSP00000617524.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 700,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947465.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1227C>G",
"hgvs_p": "p.Thr409Thr",
"transcript": "ENST00000893694.1",
"protein_id": "ENSP00000563753.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 694,
"cds_start": 1227,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893694.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1218C>G",
"hgvs_p": "p.Thr406Thr",
"transcript": "ENST00000947462.1",
"protein_id": "ENSP00000617521.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 691,
"cds_start": 1218,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947462.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1149C>G",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000893696.1",
"protein_id": "ENSP00000563755.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 668,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893696.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr",
"transcript": "ENST00000893692.1",
"protein_id": "ENSP00000563751.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 663,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893692.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Thr342Thr",
"transcript": "ENST00000939186.1",
"protein_id": "ENSP00000609245.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 627,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939186.1"
},
{
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1321+20C>G",
"hgvs_p": null,
"transcript": "ENST00000939182.1",
"protein_id": "ENSP00000609241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939182.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.77-10053C>G",
"hgvs_p": null,
"transcript": "ENST00000893691.1",
"protein_id": "ENSP00000563749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893691.1"
},
{
"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": 3,
"intron_rank": 1,
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"gene_symbol": "XRCC5",
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"transcript": "ENST00000893698.1",
"protein_id": "ENSP00000563757.1",
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "XRCC5",
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"hgvs_c": "n.475C>G",
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"transcript": "ENST00000471649.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471649.1"
}
],
"gene_symbol": "XRCC5",
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"dbsnp": "rs374258250",
"frequency_reference_population": 0.000013142504,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131425,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.232,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000655847199113317,
"dbscsnv_ada_prediction": "Benign",
"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_021141.4",
"gene_symbol": "XRCC5",
"hgnc_id": 12833,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Thr447Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}