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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: 14-89955923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89955923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89955923,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000393452.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-278C>T",
"hgvs_p": null,
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393452.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-278C>T",
"hgvs_p": null,
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393452.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000935812.1",
"protein_id": "ENSP00000605871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"transcript": "ENST00000935813.1",
"protein_id": "ENSP00000605872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "ENST00000554180.5",
"protein_id": "ENSP00000450872.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554180.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000935812.1",
"protein_id": "ENSP00000605871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"transcript": "ENST00000935813.1",
"protein_id": "ENSP00000605872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "ENST00000554180.5",
"protein_id": "ENSP00000450872.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554180.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-8+246C>T",
"hgvs_p": null,
"transcript": "ENST00000894814.1",
"protein_id": "ENSP00000564873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894814.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-8+246C>T",
"hgvs_p": null,
"transcript": "XM_011536942.4",
"protein_id": "XP_011535244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536942.4"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-231+246C>T",
"hgvs_p": null,
"transcript": "XM_047431570.1",
"protein_id": "XP_047287526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.-231+246C>T",
"hgvs_p": null,
"transcript": "ENST00000554976.5",
"protein_id": "ENSP00000452042.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000554976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-278C>T",
"hgvs_p": null,
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335725.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018319.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-278C>T",
"hgvs_p": null,
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018319.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335725.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393454.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "ENST00000935815.1",
"protein_id": "ENSP00000605874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-278C>T",
"hgvs_p": null,
"transcript": "ENST00000894818.1",
"protein_id": "ENSP00000564877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "ENST00000935816.1",
"protein_id": "ENSP00000605875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935816.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-55C>T",
"hgvs_p": null,
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008744.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-206C>T",
"hgvs_p": null,
"transcript": "ENST00000894815.1",
"protein_id": "ENSP00000564874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-448C>T",
"hgvs_p": null,
"transcript": "ENST00000894816.1",
"protein_id": "ENSP00000564875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.-459C>T",
"hgvs_p": null,
"transcript": "ENST00000894817.1",
"protein_id": "ENSP00000564876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"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": "XR_007064033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.-4C>T",
"hgvs_p": null,
"transcript": "XR_007064034.1",
"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": "XR_007064034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.-4C>T",
"hgvs_p": null,
"transcript": "XR_007064035.1",
"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": "XR_007064035.1"
}
],
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"dbsnp": "rs886050880",
"frequency_reference_population": 0.00001970987,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000197099,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.581,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393452.7",
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-278C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, with axonal neuropathy 1,Spinocerebellar ataxia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}