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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: X-154532945-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154532945&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154532945,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000393562.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "NM_001360016.2",
"protein_id": "NP_001346945.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": "ENST00000393562.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000393562.10",
"protein_id": "ENSP00000377192.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": "NM_001360016.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000696421.1",
"protein_id": "ENSP00000512616.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 581,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Asp396His",
"transcript": "ENST00000369620.6",
"protein_id": "ENSP00000358633.2",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 561,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1138G>C",
"hgvs_p": "p.Asp380His",
"transcript": "NM_000402.4",
"protein_id": "NP_000393.4",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 545,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Asp351His",
"transcript": "ENST00000439227.6",
"protein_id": "ENSP00000395599.2",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 516,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "NM_001042351.3",
"protein_id": "NP_001035810.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000393564.7",
"protein_id": "ENSP00000377194.2",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000696429.1",
"protein_id": "ENSP00000512624.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000696430.1",
"protein_id": "ENSP00000512625.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 515,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His",
"transcript": "ENST00000696420.1",
"protein_id": "ENSP00000512615.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 491,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Asp305His",
"transcript": "ENST00000696423.1",
"protein_id": "ENSP00000512618.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 470,
"cds_start": 913,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Asp304His",
"transcript": "ENST00000696422.1",
"protein_id": "ENSP00000512617.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 469,
"cds_start": 910,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 2020,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.130G>C",
"hgvs_p": null,
"transcript": "ENST00000490651.1",
"protein_id": null,
"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": 783,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*171G>C",
"hgvs_p": null,
"transcript": "ENST00000696424.1",
"protein_id": "ENSP00000512619.1",
"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": 2009,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*508G>C",
"hgvs_p": null,
"transcript": "ENST00000696426.1",
"protein_id": "ENSP00000512621.1",
"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": 2638,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*8G>C",
"hgvs_p": null,
"transcript": "ENST00000696427.1",
"protein_id": "ENSP00000512622.1",
"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": 2209,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*890G>C",
"hgvs_p": null,
"transcript": "ENST00000696428.1",
"protein_id": "ENSP00000512623.1",
"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": 2335,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*171G>C",
"hgvs_p": null,
"transcript": "ENST00000696424.1",
"protein_id": "ENSP00000512619.1",
"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": 2009,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*508G>C",
"hgvs_p": null,
"transcript": "ENST00000696426.1",
"protein_id": "ENSP00000512621.1",
"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": 2638,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*8G>C",
"hgvs_p": null,
"transcript": "ENST00000696427.1",
"protein_id": "ENSP00000512622.1",
"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": 2209,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.*890G>C",
"hgvs_p": null,
"transcript": "ENST00000696428.1",
"protein_id": "ENSP00000512623.1",
"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": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "n.865-143G>C",
"hgvs_p": null,
"transcript": "ENST00000696425.1",
"protein_id": "ENSP00000512620.1",
"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": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.*89G>C",
"hgvs_p": null,
"transcript": "ENST00000440967.5",
"protein_id": "ENSP00000400648.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"dbsnp": "rs34193178",
"frequency_reference_population": 0.00020814387,
"hom_count_reference_population": 63,
"allele_count_reference_population": 252,
"gnomad_exomes_af": 0.000123841,
"gnomad_genomes_af": 0.00103094,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 116,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18980571627616882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.821,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.289,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BP4_Moderate,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Moderate",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393562.10",
"gene_symbol": "G6PD",
"hgnc_id": 4057,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Asp350His"
}
],
"clinvar_disease": " due to G6PD deficiency, nonspherocytic hemolytic,Anemia,G6PD deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:3 LB:4",
"phenotype_combined": "not provided|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}