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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: 9-34635681-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34635681&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34635681,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005866.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "NM_005866.4",
"protein_id": "NP_005857.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 223,
"cds_start": 623,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277010.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005866.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000277010.9",
"protein_id": "ENSP00000277010.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 223,
"cds_start": 623,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005866.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277010.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"transcript": "ENST00000477726.1",
"protein_id": "ENSP00000420022.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 192,
"cds_start": 530,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*255G>A",
"hgvs_p": null,
"transcript": "ENST00000353468.4",
"protein_id": "ENSP00000434453.1",
"transcript_support_level": 1,
"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": "ENST00000353468.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.755G>A",
"hgvs_p": null,
"transcript": "ENST00000461426.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000461426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*255G>A",
"hgvs_p": null,
"transcript": "ENST00000353468.4",
"protein_id": "ENSP00000434453.1",
"transcript_support_level": 1,
"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": "ENST00000353468.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Arg202Gln",
"transcript": "ENST00000902807.1",
"protein_id": "ENSP00000572866.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 217,
"cds_start": 605,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902807.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200Gln",
"transcript": "ENST00000902806.1",
"protein_id": "ENSP00000572865.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 215,
"cds_start": 599,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902806.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "NM_001282207.2",
"protein_id": "NP_001269136.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 203,
"cds_start": 563,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282207.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "ENST00000679597.1",
"protein_id": "ENSP00000505634.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 203,
"cds_start": 563,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679597.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"transcript": "ENST00000934986.1",
"protein_id": "ENSP00000605045.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 193,
"cds_start": 533,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934986.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"transcript": "NM_147157.3",
"protein_id": "NP_671513.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 192,
"cds_start": 530,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147157.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "ENST00000902808.1",
"protein_id": "ENSP00000572867.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 172,
"cds_start": 470,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902808.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Arg141Gln",
"transcript": "ENST00000902810.1",
"protein_id": "ENSP00000572869.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 156,
"cds_start": 422,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902810.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000966016.1",
"protein_id": "ENSP00000636075.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 136,
"cds_start": 362,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966016.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119Gln",
"transcript": "ENST00000378892.5",
"protein_id": "ENSP00000368170.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 134,
"cds_start": 356,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378892.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "NM_001282206.2",
"protein_id": "NP_001269135.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 123,
"cds_start": 323,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282206.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_001282208.2",
"protein_id": "NP_001269137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282208.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*150G>A",
"hgvs_p": null,
"transcript": "NM_001282209.2",
"protein_id": "NP_001269138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282209.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*150G>A",
"hgvs_p": null,
"transcript": "ENST00000680730.1",
"protein_id": "ENSP00000505588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680730.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.469-41G>A",
"hgvs_p": null,
"transcript": "ENST00000934985.1",
"protein_id": "ENSP00000605044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934985.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.446-41G>A",
"hgvs_p": null,
"transcript": "NM_001282205.2",
"protein_id": "NP_001269134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"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": "NM_001282205.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
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{
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{
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{
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{
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],
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{
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{
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "SIGMAR1",
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"transcript": "ENST00000680277.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "SIGMAR1",
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"dbsnp": "rs541996857",
"frequency_reference_population": 0.000006814496,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615646,
"gnomad_genomes_af": 0.0000131297,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4089316129684448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.47999998927116394,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.661,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.48,
"spliceai_max_prediction": "Uncertain_significance",
"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_005866.4",
"gene_symbol": "SIGMAR1",
"hgnc_id": 8157,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 16,Autosomal recessive distal spinal muscular atrophy 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}