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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: 3-100728834-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100728834&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 100728834,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000240851.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "NM_006070.6",
"protein_id": "NP_006061.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000240851.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000240851.9",
"protein_id": "ENSP00000240851.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_006070.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000476228.5",
"protein_id": "ENSP00000417952.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 396,
"cds_start": 391,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000615993.2",
"protein_id": "ENSP00000479269.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 280,
"cds_start": 391,
"cds_end": null,
"cds_length": 843,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675692.1",
"protein_id": "ENSP00000502034.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 412,
"cds_start": 391,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "NM_001007565.2",
"protein_id": "NP_001007566.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "NM_001195478.2",
"protein_id": "NP_001182407.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000487505.6",
"protein_id": "ENSP00000420797.2",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000490574.6",
"protein_id": "ENSP00000419960.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000674615.1",
"protein_id": "ENSP00000502734.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675243.1",
"protein_id": "ENSP00000502592.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675499.1",
"protein_id": "ENSP00000502450.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675553.1",
"protein_id": "ENSP00000501815.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 391,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000676395.1",
"protein_id": "ENSP00000502071.1",
"transcript_support_level": null,
"aa_start": 131,
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"cdna_start": 643,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "NM_001195479.2",
"protein_id": "NP_001182408.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 396,
"cds_start": 391,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000463568.6",
"protein_id": "ENSP00000419504.2",
"transcript_support_level": 3,
"aa_start": 131,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000674645.1",
"protein_id": "ENSP00000501892.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
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"cds_start": 391,
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"cdna_start": 727,
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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": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000674758.1",
"protein_id": "ENSP00000502502.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 396,
"cds_start": 391,
"cds_end": null,
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"cdna_start": 782,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675047.1",
"protein_id": "ENSP00000502497.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "TFG",
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"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675420.1",
"protein_id": "ENSP00000502516.1",
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"aa_start": 131,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "TFG",
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"hgvs_c": "c.391C>T",
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"transcript": "ENST00000676431.1",
"protein_id": "ENSP00000502698.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000675246.1",
"protein_id": "ENSP00000501620.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 369,
"cds_start": 391,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"transcript": "ENST00000620299.5",
"protein_id": "ENSP00000479981.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 284,
"cds_start": 391,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"dbsnp": "rs770053266",
"frequency_reference_population": 0.0000034400578,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000344006,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10872474312782288,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.443,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000240851.9",
"gene_symbol": "TFG",
"hgnc_id": 11758,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser"
}
],
"clinvar_disease": " Okinawa type,Hereditary motor and sensory neuropathy,Hereditary spastic paraplegia 57",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary motor and sensory neuropathy, Okinawa type;Hereditary spastic paraplegia 57",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}