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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: 3-71198338-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71198338&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 71198338,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000647725.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000318779.7",
"protein_id": "ENSP00000318721.3",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 114,
"cds_start": 44,
"cds_end": null,
"cds_length": 345,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000471386.3",
"protein_id": "ENSP00000497992.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 34,
"cds_start": 44,
"cds_end": null,
"cds_length": 107,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 693,
"cds_start": 44,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 693,
"cds_start": 44,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_032682.6",
"protein_id": "NP_116071.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000498215.7",
"protein_id": "ENSP00000418102.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000648380.1",
"protein_id": "ENSP00000497344.1",
"transcript_support_level": null,
"aa_start": 15,
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"cds_start": 44,
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"cdna_start": 472,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000649631.1",
"protein_id": "ENSP00000496990.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 677,
"cds_start": 44,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000650068.2",
"protein_id": "ENSP00000497454.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
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"cds_start": 44,
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"cdna_start": 516,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001244808.3",
"protein_id": "NP_001231737.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
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"cdna_start": 648,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001349341.3",
"protein_id": "NP_001336270.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000493089.7",
"protein_id": "ENSP00000418524.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000648710.2",
"protein_id": "ENSP00000497430.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
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"cdna_start": 641,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000648718.1",
"protein_id": "ENSP00000496810.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
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"cdna_start": 739,
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"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000649610.2",
"protein_id": "ENSP00000497693.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 676,
"cds_start": 44,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000649596.1",
"protein_id": "ENSP00000496932.1",
"transcript_support_level": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0885,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.001,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val"
},
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000649528.3",
"gene_symbol": "FOXP1",
"hgnc_id": 3823,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val"
}
],
"clinvar_disease": "Cerebellar vermis hypoplasia,Congenital cerebellar hypoplasia,FOXP1-related disorder,Inborn genetic diseases,Intellectual disability-severe speech delay-mild dysmorphism syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:2",
"phenotype_combined": "not specified|Intellectual disability-severe speech delay-mild dysmorphism syndrome|Cerebellar vermis hypoplasia;Intellectual disability-severe speech delay-mild dysmorphism syndrome|not provided|FOXP1-related disorder|Inborn genetic diseases|Congenital cerebellar hypoplasia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}