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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: 2-63313272-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63313272&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63313272,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000272321.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "NM_015910.7",
"protein_id": "NP_056994.3",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 746,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "ENST00000272321.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "ENST00000272321.12",
"protein_id": "ENSP00000272321.7",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 746,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "NM_015910.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "ENST00000409562.7",
"protein_id": "ENSP00000387222.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 618,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Asp437Asp",
"transcript": "ENST00000398544.7",
"protein_id": "ENSP00000381552.3",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 587,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Asp404Asp",
"transcript": "ENST00000409120.5",
"protein_id": "ENSP00000386769.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 554,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 4763,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "NM_001354044.2",
"protein_id": "NP_001340973.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 722,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 5146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Asp437Asp",
"transcript": "NM_001042692.3",
"protein_id": "NP_001036157.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 587,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Asp404Asp",
"transcript": "ENST00000409199.5",
"protein_id": "ENSP00000386592.1",
"transcript_support_level": 2,
"aa_start": 404,
"aa_end": null,
"aa_length": 554,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "XM_005264348.5",
"protein_id": "XP_005264405.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 781,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_011532881.4",
"protein_id": "XP_011531183.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 757,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_047444626.1",
"protein_id": "XP_047300582.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 757,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 7402,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_047444627.1",
"protein_id": "XP_047300583.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 757,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_047444628.1",
"protein_id": "XP_047300584.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 757,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_047444629.1",
"protein_id": "XP_047300585.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 757,
"cds_start": 1716,
"cds_end": null,
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"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Asp563Asp",
"transcript": "XM_047444630.1",
"protein_id": "XP_047300586.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 748,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Asp572Asp",
"transcript": "XM_047444631.1",
"protein_id": "XP_047300587.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 722,
"cds_start": 1716,
"cds_end": null,
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"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "XM_011532884.4",
"protein_id": "XP_011531186.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 652,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 11693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "XM_047444632.1",
"protein_id": "XP_047300588.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 648,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "XM_011532887.4",
"protein_id": "XP_011531189.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 642,
"cds_start": 1788,
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"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Asp437Asp",
"transcript": "XM_047444633.1",
"protein_id": "XP_047300589.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 622,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp",
"transcript": "XM_017004253.3",
"protein_id": "XP_016859742.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 617,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 6718,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.1149C>T",
"hgvs_p": null,
"transcript": "ENST00000409354.6",
"protein_id": "ENSP00000386795.2",
"transcript_support_level": 2,
"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": 2122,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.1435C>T",
"hgvs_p": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 14,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
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"hgvs_c": "n.2246C>T",
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"transcript": "NR_148704.2",
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"cdna_length": 5142,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 17,
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"gene_symbol": "WDPCP",
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"hgvs_c": "n.1994C>T",
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"transcript": "NR_148705.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "WDPCP",
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"hgvs_c": "n.1994C>T",
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"transcript": "XR_007076379.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 15,
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"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.1994C>T",
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"transcript": "XR_007076380.1",
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"cdna_length": 2332,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"dbsnp": "rs185980830",
"frequency_reference_population": 0.000066929344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.0000485838,
"gnomad_genomes_af": 0.000243021,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.295,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000272321.12",
"gene_symbol": "WDPCP",
"hgnc_id": 28027,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Asp596Asp"
}
],
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 15,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not specified|Bardet-Biedl syndrome 15|not provided|Bardet-Biedl syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}