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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: 11-124897049-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124897049&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124897049,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019055.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "NM_019055.6",
"protein_id": "NP_061928.4",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1007,
"cds_start": 283,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306534.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019055.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000306534.8",
"protein_id": "ENSP00000304945.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 1007,
"cds_start": 283,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019055.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306534.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877825.1",
"protein_id": "ENSP00000547884.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1012,
"cds_start": 283,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877825.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877820.1",
"protein_id": "ENSP00000547879.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1005,
"cds_start": 283,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877820.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877818.1",
"protein_id": "ENSP00000547877.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1003,
"cds_start": 283,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877818.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "NM_001441183.1",
"protein_id": "NP_001428112.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 969,
"cds_start": 283,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441183.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877819.1",
"protein_id": "ENSP00000547878.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 969,
"cds_start": 283,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877819.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Ala94Thr",
"transcript": "ENST00000954783.1",
"protein_id": "ENSP00000624842.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 968,
"cds_start": 280,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954783.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877821.1",
"protein_id": "ENSP00000547880.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 950,
"cds_start": 283,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877821.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877822.1",
"protein_id": "ENSP00000547881.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 945,
"cds_start": 283,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877822.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr",
"transcript": "ENST00000877817.1",
"protein_id": "ENSP00000547876.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 912,
"cds_start": 283,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.-153G>A",
"hgvs_p": null,
"transcript": "NM_001301088.2",
"protein_id": "NP_001288017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": null,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301088.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.-153G>A",
"hgvs_p": null,
"transcript": "ENST00000533054.5",
"protein_id": "ENSP00000437129.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": null,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533054.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.71-379G>A",
"hgvs_p": null,
"transcript": "ENST00000877824.1",
"protein_id": "ENSP00000547883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877824.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "c.71-379G>A",
"hgvs_p": null,
"transcript": "ENST00000877823.1",
"protein_id": "ENSP00000547882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": null,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877823.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000526899.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000526899.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "n.110G>A",
"hgvs_p": null,
"transcript": "ENST00000527279.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000527279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "n.379G>A",
"hgvs_p": null,
"transcript": "ENST00000529941.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000529941.1"
},
{
"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": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "n.356G>A",
"hgvs_p": null,
"transcript": "ENST00000533337.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000533337.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254943",
"gene_hgnc_id": null,
"hgvs_c": "n.483+4917C>T",
"hgvs_p": null,
"transcript": "ENST00000524433.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000524433.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254943",
"gene_hgnc_id": null,
"hgvs_c": "n.328+4917C>T",
"hgvs_p": null,
"transcript": "ENST00000828696.1",
"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": "ENST00000828696.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254943",
"gene_hgnc_id": null,
"hgvs_c": "n.278+4917C>T",
"hgvs_p": null,
"transcript": "ENST00000828697.1",
"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": "ENST00000828697.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984406",
"gene_hgnc_id": null,
"hgvs_c": "n.334+4917C>T",
"hgvs_p": null,
"transcript": "XR_001748429.3",
"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_001748429.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"hgvs_c": "n.-203G>A",
"hgvs_p": null,
"transcript": "ENST00000532300.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000532300.5"
}
],
"gene_symbol": "ROBO4",
"gene_hgnc_id": 17985,
"dbsnp": "rs138370967",
"frequency_reference_population": 0.000062590865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.000062272,
"gnomad_genomes_af": 0.0000656495,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013157159090042114,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.687,
"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": "PP5_Moderate,BP4,BS2_Supporting",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019055.6",
"gene_symbol": "ROBO4",
"hgnc_id": 17985,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Ala95Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000524433.2",
"gene_symbol": "ENSG00000254943",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.483+4917C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001748429.3",
"gene_symbol": "LOC107984406",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.334+4917C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Ascending tubular aorta aneurysm,Bicuspid aortic valve,ROBO4-related disorder",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Ascending tubular aorta aneurysm;Bicuspid aortic valve|ROBO4-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}