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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: 7-92065227-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92065227&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92065227,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000356239.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3907,
"cds_start": -4,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "ENST00000356239.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3907,
"cds_start": -4,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "NM_005751.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.623-4A>G",
"hgvs_p": null,
"transcript": "ENST00000491695.2",
"protein_id": "ENSP00000494626.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2122,
"cds_start": -4,
"cds_end": null,
"cds_length": 6369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.8940A>G",
"hgvs_p": null,
"transcript": "ENST00000680074.1",
"protein_id": null,
"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": 10080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6074-4A>G",
"hgvs_p": null,
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3931,
"cds_start": -4,
"cds_end": null,
"cds_length": 11796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3923,
"cds_start": -4,
"cds_end": null,
"cds_length": 11772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6017-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3920,
"cds_start": -4,
"cds_end": null,
"cds_length": 11763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3915,
"cds_start": -4,
"cds_end": null,
"cds_length": 11748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3899,
"cds_start": -4,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3899,
"cds_start": -4,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5924-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3889,
"cds_start": -4,
"cds_end": null,
"cds_length": 11670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5885-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3876,
"cds_start": -4,
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"cds_length": 11631,
"cdna_start": null,
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"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5837-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3860,
"cds_start": -4,
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"cds_length": 11583,
"cdna_start": null,
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"cdna_length": 12357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680072.1",
"protein_id": "ENSP00000506581.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680952.1",
"protein_id": "ENSP00000506407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3827,
"cds_start": -4,
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"cds_length": 11484,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5720-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679821.1",
"protein_id": "ENSP00000506040.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.623-4A>G",
"hgvs_p": null,
"transcript": "NM_001379277.1",
"protein_id": "NP_001366206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2122,
"cds_start": -4,
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"cds_length": 6369,
"cdna_start": null,
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"cdna_length": 7474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*5707-4A>G",
"hgvs_p": null,
"transcript": "ENST00000674381.2",
"protein_id": "ENSP00000501536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679448.1",
"protein_id": "ENSP00000505889.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.5978-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679457.1",
"protein_id": "ENSP00000505450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6200-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679474.1",
"protein_id": null,
"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": 13320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*5763-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679554.1",
"protein_id": "ENSP00000506415.1",
"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": 8638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6200-4A>G",
"hgvs_p": null,
"transcript": "ENST00000679722.1",
"protein_id": null,
"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": 9295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6200-4A>G",
"hgvs_p": null,
"transcript": "ENST00000680047.1",
"protein_id": null,
"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": 13866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"dbsnp": "rs147494754",
"frequency_reference_population": 0.0032616514,
"hom_count_reference_population": 11,
"allele_count_reference_population": 5061,
"gnomad_exomes_af": 0.00343365,
"gnomad_genomes_af": 0.00168107,
"gnomad_exomes_ac": 4805,
"gnomad_genomes_ac": 256,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9079999923706055,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.626,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.84,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.998635198116879,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP6,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000356239.8",
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5978-4A>G",
"hgvs_p": null
}
],
"clinvar_disease": "AKAP9-related disorder,Cardiovascular phenotype,Congenital long QT syndrome,Long QT syndrome,Long QT syndrome 11,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:4",
"phenotype_combined": "Long QT syndrome 11|Congenital long QT syndrome|Long QT syndrome|not provided|Cardiovascular phenotype|AKAP9-related disorder|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}