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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: 13-52065517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52065517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52065517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365552.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "NM_001365552.1",
"protein_id": "NP_001352481.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 832,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684899.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365552.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000684899.1",
"protein_id": "ENSP00000509632.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 832,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365552.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684899.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "ENST00000355568.8",
"protein_id": "ENSP00000347767.4",
"transcript_support_level": 1,
"aa_start": 673,
"aa_end": null,
"aa_length": 708,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355568.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "ENST00000647945.2",
"protein_id": "ENSP00000497892.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 857,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647945.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000966558.1",
"protein_id": "ENSP00000636617.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 832,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966558.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "NM_199289.3",
"protein_id": "NP_954983.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 708,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199289.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "ENST00000617045.1",
"protein_id": "ENSP00000477810.1",
"transcript_support_level": 2,
"aa_start": 673,
"aa_end": null,
"aa_length": 708,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617045.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000652119.1",
"protein_id": "ENSP00000498918.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 683,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652119.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Asp497Asn",
"transcript": "ENST00000966557.1",
"protein_id": "ENSP00000636616.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 681,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966557.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Asp720Asn",
"transcript": "XM_047430287.1",
"protein_id": "XP_047286243.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 904,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430287.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Asp719Asn",
"transcript": "XM_047430288.1",
"protein_id": "XP_047286244.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 903,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430288.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "XM_047430289.1",
"protein_id": "XP_047286245.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 889,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430289.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Asp697Asn",
"transcript": "XM_047430290.1",
"protein_id": "XP_047286246.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 881,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430290.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Asp689Asn",
"transcript": "XM_047430291.1",
"protein_id": "XP_047286247.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 873,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430291.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "XM_047430292.1",
"protein_id": "XP_047286248.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 832,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430292.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Asp569Asn",
"transcript": "XM_047430294.1",
"protein_id": "XP_047286250.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 753,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430294.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Asp508Asn",
"transcript": "XM_047430295.1",
"protein_id": "XP_047286251.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 692,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430295.1"
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1850-3564G>A",
"hgvs_p": null,
"transcript": "XM_047430293.1",
"protein_id": "XP_047286249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.*551G>A",
"hgvs_p": null,
"transcript": "ENST00000465811.7",
"protein_id": "ENSP00000431956.2",
"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": "ENST00000465811.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.1605G>A",
"hgvs_p": null,
"transcript": "ENST00000652502.1",
"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": "ENST00000652502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.*551G>A",
"hgvs_p": null,
"transcript": "ENST00000465811.7",
"protein_id": "ENSP00000431956.2",
"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": "ENST00000465811.7"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALG11",
"gene_hgnc_id": 32456,
"hgvs_c": "n.45-13091C>T",
"hgvs_p": null,
"transcript": "ENST00000679495.1",
"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": "ENST00000679495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.*6G>A",
"hgvs_p": null,
"transcript": "XR_941574.3",
"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_941574.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.*6G>A",
"hgvs_p": null,
"transcript": "XR_941575.3",
"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_941575.3"
}
],
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"dbsnp": "rs143577356",
"frequency_reference_population": 0.000024790152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000212138,
"gnomad_genomes_af": 0.0000591218,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056704550981521606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.0799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.66,
"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": -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": "NM_001365552.1",
"gene_symbol": "NEK5",
"hgnc_id": 7748,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000679495.1",
"gene_symbol": "ALG11",
"hgnc_id": 32456,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.45-13091C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}