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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: 7-27538416-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=27538416&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 27538416,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152740.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ala207Val",
"transcript": "NM_152740.4",
"protein_id": "NP_689953.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 336,
"cds_start": 620,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265395.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152740.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ala207Val",
"transcript": "ENST00000265395.7",
"protein_id": "ENSP00000265395.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 336,
"cds_start": 620,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152740.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265395.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "ENST00000879285.1",
"protein_id": "ENSP00000549344.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 400,
"cds_start": 812,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879285.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ala249Val",
"transcript": "ENST00000939048.1",
"protein_id": "ENSP00000609107.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 378,
"cds_start": 746,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939048.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"transcript": "ENST00000956051.1",
"protein_id": "ENSP00000626110.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 373,
"cds_start": 731,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956051.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000956052.1",
"protein_id": "ENSP00000626111.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 719,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956052.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ala219Val",
"transcript": "ENST00000879284.1",
"protein_id": "ENSP00000549343.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 348,
"cds_start": 656,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879284.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ala206Val",
"transcript": "ENST00000939047.1",
"protein_id": "ENSP00000609106.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 335,
"cds_start": 617,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939047.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ala205Val",
"transcript": "ENST00000879280.1",
"protein_id": "ENSP00000549339.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 334,
"cds_start": 614,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879280.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"transcript": "ENST00000879286.1",
"protein_id": "ENSP00000549345.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 331,
"cds_start": 605,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879286.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"transcript": "ENST00000879282.1",
"protein_id": "ENSP00000549341.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 290,
"cds_start": 482,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879282.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"transcript": "ENST00000956050.1",
"protein_id": "ENSP00000626109.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 281,
"cds_start": 455,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956050.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"transcript": "ENST00000956049.1",
"protein_id": "ENSP00000626108.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 280,
"cds_start": 452,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956049.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000879283.1",
"protein_id": "ENSP00000549342.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 277,
"cds_start": 443,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879283.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"transcript": "ENST00000879279.1",
"protein_id": "ENSP00000549338.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 276,
"cds_start": 440,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879279.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Ala106Val",
"transcript": "NM_001430749.1",
"protein_id": "NP_001417678.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 235,
"cds_start": 317,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001430749.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "ENST00000879281.1",
"protein_id": "ENSP00000549340.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 205,
"cds_start": 227,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879281.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ala149Val",
"transcript": "ENST00000425715.1",
"protein_id": "ENSP00000390205.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 204,
"cds_start": 446,
"cds_end": null,
"cds_length": 616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425715.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Ala106Val",
"transcript": "XM_047419834.1",
"protein_id": "XP_047275790.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 235,
"cds_start": 317,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419834.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Ala106Val",
"transcript": "XM_047419835.1",
"protein_id": "XP_047275791.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 235,
"cds_start": 317,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
"hgvs_c": "c.618+4551C>T",
"hgvs_p": null,
"transcript": "ENST00000879287.1",
"protein_id": "ENSP00000549346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBADH",
"gene_hgnc_id": 4907,
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"protein_id": "ENSP00000393365.1",
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"mane_plus": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "HIBADH",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000428288.2"
}
],
"gene_symbol": "HIBADH",
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"dbsnp": "rs755307559",
"frequency_reference_population": 0.000015512784,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000143887,
"gnomad_genomes_af": 0.0000262988,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4693496525287628,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7960000038146973,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.3184,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.864,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.987062890216108,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152740.4",
"gene_symbol": "HIBADH",
"hgnc_id": 4907,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ala207Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}