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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: 2-71682530-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71682530&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71682530,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6174G>A",
"hgvs_p": "p.Arg2058Arg",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2119,
"cds_start": 6174,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 6318,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6174G>A",
"hgvs_p": "p.Arg2058Arg",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2119,
"cds_start": 6174,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 6318,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6057G>A",
"hgvs_p": "p.Arg2019Arg",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6057,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 6495,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6057G>A",
"hgvs_p": "p.Arg2019Arg",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6057,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 6495,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6171G>A",
"hgvs_p": "p.Arg2057Arg",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2118,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 6448,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6153G>A",
"hgvs_p": "p.Arg2051Arg",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2112,
"cds_start": 6153,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 6294,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6150G>A",
"hgvs_p": "p.Arg2050Arg",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 2050,
"aa_end": null,
"aa_length": 2111,
"cds_start": 6150,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 6427,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6123G>A",
"hgvs_p": "p.Arg2041Arg",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2102,
"cds_start": 6123,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 6264,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6120G>A",
"hgvs_p": "p.Arg2040Arg",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6120,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6397,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6111G>A",
"hgvs_p": "p.Arg2037Arg",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2098,
"cds_start": 6111,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6252,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6108G>A",
"hgvs_p": "p.Arg2036Arg",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2097,
"cds_start": 6108,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 6385,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6081G>A",
"hgvs_p": "p.Arg2027Arg",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 2027,
"aa_end": null,
"aa_length": 2088,
"cds_start": 6081,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 6222,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6060G>A",
"hgvs_p": "p.Arg2020Arg",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 2020,
"aa_end": null,
"aa_length": 2081,
"cds_start": 6060,
"cds_end": null,
"cds_length": 6246,
"cdna_start": 6201,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6171G>A",
"hgvs_p": "p.Arg2057Arg",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2118,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 6609,
"cdna_end": null,
"cdna_length": 7066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6153G>A",
"hgvs_p": "p.Arg2051Arg",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2112,
"cds_start": 6153,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 6297,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6150G>A",
"hgvs_p": "p.Arg2050Arg",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 2050,
"aa_end": null,
"aa_length": 2111,
"cds_start": 6150,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 6588,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6123G>A",
"hgvs_p": "p.Arg2041Arg",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2102,
"cds_start": 6123,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 6267,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6120G>A",
"hgvs_p": "p.Arg2040Arg",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6120,
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"cds_length": 6306,
"cdna_start": 6558,
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"cdna_length": 7015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6111G>A",
"hgvs_p": "p.Arg2037Arg",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2098,
"cds_start": 6111,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6255,
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"cdna_length": 6712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6108G>A",
"hgvs_p": "p.Arg2036Arg",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2097,
"cds_start": 6108,
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"cdna_start": 6546,
"cdna_end": null,
"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6081G>A",
"hgvs_p": "p.Arg2027Arg",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 2027,
"aa_end": null,
"aa_length": 2088,
"cds_start": 6081,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 6225,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.6078G>A",
"hgvs_p": "p.Arg2026Arg",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 2026,
"aa_end": null,
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{
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},
{
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}
],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs143762717",
"frequency_reference_population": 0.00088905793,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1435,
"gnomad_exomes_af": 0.000933725,
"gnomad_genomes_af": 0.000459976,
"gnomad_exomes_ac": 1365,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.7379999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.845,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.995476029438441,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000410020.8",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6174G>A",
"hgvs_p": "p.Arg2058Arg"
}
],
"clinvar_disease": " recessive,Autosomal recessive limb-girdle muscular dystrophy type 2B,DYSF-related disorder,Inborn genetic diseases,Limb-girdle muscular dystrophy,Miyoshi myopathy,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:4",
"phenotype_combined": "Limb-girdle muscular dystrophy, recessive|Miyoshi myopathy|not provided|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Inborn genetic diseases|DYSF-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}