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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: 2-27461793-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27461793&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27461793,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000260570.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2158delC",
"hgvs_p": "p.Arg720fs",
"transcript": "NM_015662.3",
"protein_id": "NP_056477.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1749,
"cds_start": 2158,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000260570.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2158delC",
"hgvs_p": "p.Arg720fs",
"transcript": "ENST00000260570.8",
"protein_id": "ENSP00000260570.3",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 1749,
"cds_start": 2158,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015662.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2092delC",
"hgvs_p": "p.Arg698fs",
"transcript": "NM_001410739.1",
"protein_id": "NP_001397668.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2092,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2092delC",
"hgvs_p": "p.Arg698fs",
"transcript": "ENST00000675690.1",
"protein_id": "ENSP00000502283.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2092,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2095delC",
"hgvs_p": "p.Arg699fs",
"transcript": "XM_006711986.4",
"protein_id": "XP_006712049.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1728,
"cds_start": 2095,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2158delC",
"hgvs_p": "p.Arg720fs",
"transcript": "XM_006711987.2",
"protein_id": "XP_006712050.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1716,
"cds_start": 2158,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2092delC",
"hgvs_p": "p.Arg698fs",
"transcript": "XM_047443900.1",
"protein_id": "XP_047299856.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1694,
"cds_start": 2092,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1477delC",
"hgvs_p": "p.Arg493fs",
"transcript": "XM_047443901.1",
"protein_id": "XP_047299857.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1522,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1477delC",
"hgvs_p": "p.Arg493fs",
"transcript": "XM_047443902.1",
"protein_id": "XP_047299858.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1522,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2158delC",
"hgvs_p": "p.Arg720fs",
"transcript": "XM_011532758.2",
"protein_id": "XP_011531060.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2092delC",
"hgvs_p": "p.Arg698fs",
"transcript": "XM_047443903.1",
"protein_id": "XP_047299859.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2092,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.598delC",
"hgvs_p": "p.Arg200fs",
"transcript": "XM_011532759.3",
"protein_id": "XP_011531061.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1229,
"cds_start": 598,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.295delC",
"hgvs_p": "p.Arg99fs",
"transcript": "XM_047443904.1",
"protein_id": "XP_047299860.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1128,
"cds_start": 295,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.223delC",
"hgvs_p": "p.Arg75fs",
"transcript": "XM_011532760.3",
"protein_id": "XP_011531062.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 1104,
"cds_start": 223,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3625,
"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": 22,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.2290delC",
"hgvs_p": null,
"transcript": "ENST00000507184.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 5565,
"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": 19,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1331delC",
"hgvs_p": null,
"transcript": "ENST00000674701.1",
"protein_id": "ENSP00000502275.1",
"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": 6271,
"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": 20,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*173delC",
"hgvs_p": null,
"transcript": "ENST00000674824.1",
"protein_id": "ENSP00000501824.1",
"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": 5391,
"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": 20,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1755delC",
"hgvs_p": null,
"transcript": "ENST00000674932.1",
"protein_id": "ENSP00000501967.1",
"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": 6133,
"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": 19,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.1477delC",
"hgvs_p": null,
"transcript": "ENST00000675410.1",
"protein_id": "ENSP00000502030.1",
"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": 5901,
"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": 21,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1448delC",
"hgvs_p": null,
"transcript": "ENST00000676119.1",
"protein_id": "ENSP00000501701.1",
"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": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1331delC",
"hgvs_p": null,
"transcript": "ENST00000674701.1",
"protein_id": "ENSP00000502275.1",
"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": 6271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*173delC",
"hgvs_p": null,
"transcript": "ENST00000674824.1",
"protein_id": "ENSP00000501824.1",
"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": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1755delC",
"hgvs_p": null,
"transcript": "ENST00000674932.1",
"protein_id": "ENSP00000501967.1",
"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": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*1448delC",
"hgvs_p": null,
"transcript": "ENST00000676119.1",
"protein_id": "ENSP00000501701.1",
"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": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"dbsnp": "rs587777086",
"frequency_reference_population": 0.000014249762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000129969,
"gnomad_genomes_af": 0.000026285,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.329,
"phylop100way_prediction": "Uncertain_significance",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000260570.8",
"gene_symbol": "IFT172",
"hgnc_id": 30391,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2158delC",
"hgvs_p": "p.Arg720fs"
}
],
"clinvar_disease": "Bardet-Biedl syndrome 20,Retinitis pigmentosa 71,Short-rib thoracic dysplasia 10 with or without polydactyly,Short-rib thoracic dysplasia 10 without polydactyly,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Short-rib thoracic dysplasia 10 without polydactyly|Retinitis pigmentosa 71|Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71|not provided|Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71;Bardet-Biedl syndrome 20",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}