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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: 18-26862319-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=26862319&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 26862319,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001317384.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001650.7",
"protein_id": "NP_001641.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 310,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383168.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001650.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000383168.9",
"protein_id": "ENSP00000372654.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 310,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001650.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383168.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "ENST00000581374.5",
"protein_id": "ENSP00000462597.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 301,
"cds_start": 244,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581374.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001317384.3",
"protein_id": "NP_001304313.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 352,
"cds_start": 310,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317384.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000672981.2",
"protein_id": "ENSP00000500598.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 352,
"cds_start": 310,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672981.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "NM_001364287.1",
"protein_id": "NP_001351216.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 330,
"cds_start": 244,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364287.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "NM_001364289.2",
"protein_id": "NP_001351218.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 330,
"cds_start": 244,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364289.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000672188.1",
"protein_id": "ENSP00000500720.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 310,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672188.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000906982.1",
"protein_id": "ENSP00000577041.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 309,
"cds_start": 310,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906982.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "NM_001364286.1",
"protein_id": "NP_001351215.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 301,
"cds_start": 244,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364286.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "NM_004028.5",
"protein_id": "NP_004019.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 301,
"cds_start": 244,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004028.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "ENST00000440832.7",
"protein_id": "ENSP00000393121.3",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 301,
"cds_start": 244,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440832.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001317387.3",
"protein_id": "NP_001304316.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 296,
"cds_start": 310,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317387.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000675739.1",
"protein_id": "ENSP00000502364.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 296,
"cds_start": 310,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675739.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Met63Val",
"transcript": "ENST00000578776.1",
"protein_id": "ENSP00000462075.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 184,
"cds_start": 187,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578776.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.289A>G",
"hgvs_p": "p.Met97Val",
"transcript": "XM_011525942.4",
"protein_id": "XP_011524244.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 316,
"cds_start": 289,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525942.4"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.*9A>G",
"hgvs_p": null,
"transcript": "ENST00000383170.3",
"protein_id": "ENSP00000372656.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000383170.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000584088.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000584088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.*9A>G",
"hgvs_p": null,
"transcript": "ENST00000383170.3",
"protein_id": "ENSP00000372656.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000383170.3"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.93-62441T>C",
"hgvs_p": null,
"transcript": "ENST00000579964.6",
"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": "ENST00000579964.6"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.306-62441T>C",
"hgvs_p": null,
"transcript": "ENST00000582605.5",
"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": "pseudogene",
"feature": "ENST00000582605.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.194-62441T>C",
"hgvs_p": null,
"transcript": "ENST00000627963.2",
"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": "ENST00000627963.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.823-62441T>C",
"hgvs_p": null,
"transcript": "ENST00000628174.2",
"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": "ENST00000628174.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.-143A>G",
"hgvs_p": null,
"transcript": "ENST00000583022.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000583022.5"
}
],
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"dbsnp": null,
"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": 0.813907265663147,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.757,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.836,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001317384.3",
"gene_symbol": "AQP4",
"hgnc_id": 637,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000582605.5",
"gene_symbol": "AQP4-AS1",
"hgnc_id": 26399,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.306-62441T>C",
"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
}