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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: 22-40365000-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40365000&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40365000,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410812.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "NM_000026.4",
"protein_id": "NP_000017.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 484,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000623063.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000026.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "ENST00000623063.3",
"protein_id": "ENSP00000485525.1",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 484,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623063.3"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1191+635T>C",
"hgvs_p": null,
"transcript": "ENST00000342312.9",
"protein_id": "ENSP00000341429.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342312.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.*706T>C",
"hgvs_p": null,
"transcript": "ENST00000480775.3",
"protein_id": "ENSP00000485462.2",
"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": "ENST00000480775.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1008T>C",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"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": "ENST00000639722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.*706T>C",
"hgvs_p": null,
"transcript": "ENST00000480775.3",
"protein_id": "ENSP00000485462.2",
"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": "ENST00000480775.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1008T>C",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"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": "ENST00000639722.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "NM_001410812.1",
"protein_id": "NP_001397741.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 526,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410812.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "ENST00000680978.1",
"protein_id": "ENSP00000505244.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 526,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680978.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1399T>C",
"hgvs_p": "p.Ser467Pro",
"transcript": "ENST00000680378.1",
"protein_id": "ENSP00000505556.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 513,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680378.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Ser459Pro",
"transcript": "ENST00000969089.1",
"protein_id": "ENSP00000639148.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 505,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969089.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Ser452Pro",
"transcript": "ENST00000216194.11",
"protein_id": "ENSP00000216194.8",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 498,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216194.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Ser452Pro",
"transcript": "ENST00000625194.4",
"protein_id": "ENSP00000485289.2",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 498,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625194.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1351T>C",
"hgvs_p": "p.Ser451Pro",
"transcript": "ENST00000932040.1",
"protein_id": "ENSP00000602099.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 497,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932040.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1309T>C",
"hgvs_p": "p.Ser437Pro",
"transcript": "ENST00000892511.1",
"protein_id": "ENSP00000562570.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 483,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892511.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "ENST00000892512.1",
"protein_id": "ENSP00000562571.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 482,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892512.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1303T>C",
"hgvs_p": "p.Ser435Pro",
"transcript": "ENST00000969087.1",
"protein_id": "ENSP00000639146.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 481,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969087.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "NM_001363840.3",
"protein_id": "NP_001350769.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 480,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363840.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro",
"transcript": "ENST00000636714.1",
"protein_id": "ENSP00000490946.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 480,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636714.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1279T>C",
"hgvs_p": "p.Ser427Pro",
"transcript": "ENST00000892515.1",
"protein_id": "ENSP00000562574.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 473,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892515.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1276T>C",
"hgvs_p": "p.Ser426Pro",
"transcript": "ENST00000892506.1",
"protein_id": "ENSP00000562565.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 472,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892506.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1270T>C",
"hgvs_p": "p.Ser424Pro",
"transcript": "ENST00000932045.1",
"protein_id": "ENSP00000602104.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 470,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932045.1"
},
{
"aa_ref": "S",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680444.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.-33T>C",
"hgvs_p": null,
"transcript": "ENST00000498234.2",
"protein_id": "ENSP00000476535.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498234.2"
}
],
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"dbsnp": "rs119450940",
"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": 0.3276856243610382,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.513,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1122,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.923,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410812.1",
"gene_symbol": "ADSL",
"hgnc_id": 291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Ser438Pro"
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639722.1",
"gene_symbol": "ENSG00000284431",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1008T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Adenylosuccinate lyase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Adenylosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}