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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: 1-95191684-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=95191684&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 95191684,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152487.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "NM_152487.3",
"protein_id": "NP_689700.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370203.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152487.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000370203.9",
"protein_id": "ENSP00000359222.4",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152487.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370203.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.473+17795A>G",
"hgvs_p": null,
"transcript": "ENST00000604534.5",
"protein_id": "ENSP00000475025.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604534.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "NM_001199679.2",
"protein_id": "NP_001186608.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199679.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882686.1",
"protein_id": "ENSP00000552745.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882686.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882687.1",
"protein_id": "ENSP00000552746.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882687.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882688.1",
"protein_id": "ENSP00000552747.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882688.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882689.1",
"protein_id": "ENSP00000552748.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882689.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882690.1",
"protein_id": "ENSP00000552749.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882690.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882692.1",
"protein_id": "ENSP00000552751.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882692.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882693.1",
"protein_id": "ENSP00000552752.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882693.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882694.1",
"protein_id": "ENSP00000552753.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882694.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882695.1",
"protein_id": "ENSP00000552754.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882695.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000882696.1",
"protein_id": "ENSP00000552755.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882696.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000941043.1",
"protein_id": "ENSP00000611102.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 263,
"cds_start": 608,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941043.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Tyr95Cys",
"transcript": "ENST00000882691.1",
"protein_id": "ENSP00000552750.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 155,
"cds_start": 284,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.473+17795A>G",
"hgvs_p": null,
"transcript": "NM_001199691.1",
"protein_id": "NP_001186620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.116+17795A>G",
"hgvs_p": null,
"transcript": "ENST00000604203.1",
"protein_id": "ENSP00000474793.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604203.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RWDD3-DT",
"gene_hgnc_id": 55839,
"hgvs_c": "n.464+13412T>C",
"hgvs_p": null,
"transcript": "ENST00000419846.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419846.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RWDD3-DT",
"gene_hgnc_id": 55839,
"hgvs_c": "n.467+13412T>C",
"hgvs_p": null,
"transcript": "ENST00000421762.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000421762.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RWDD3-DT",
"gene_hgnc_id": 55839,
"hgvs_c": "n.443-11325T>C",
"hgvs_p": null,
"transcript": "ENST00000663020.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663020.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RWDD3-DT",
"gene_hgnc_id": 55839,
"hgvs_c": "n.468-11325T>C",
"hgvs_p": null,
"transcript": "NR_125948.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125948.1"
},
{
"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": 4,
"intron_rank": 3,
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"gene_symbol": "RWDD3-DT",
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"hgvs_c": "n.467+13412T>C",
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"transcript": "NR_125949.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125949.1"
}
],
"gene_symbol": "TLCD4",
"gene_hgnc_id": 26477,
"dbsnp": "rs1175112724",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46280229091644287,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.421,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0806,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.94,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152487.3",
"gene_symbol": "TLCD4",
"hgnc_id": 26477,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199691.1",
"gene_symbol": "TLCD4-RWDD3",
"hgnc_id": 49388,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.473+17795A>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000421762.5",
"gene_symbol": "RWDD3-DT",
"hgnc_id": 55839,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.467+13412T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}