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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: 7-1816074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1816074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1816074,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003550.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_001013836.2",
"protein_id": "NP_001013858.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": "ENST00000265854.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013836.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000265854.12",
"protein_id": "ENSP00000265854.7",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": "NM_001013836.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265854.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000406869.5",
"protein_id": "ENSP00000385334.1",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286192",
"gene_hgnc_id": null,
"hgvs_c": "n.*4913C>T",
"hgvs_p": null,
"transcript": "ENST00000651235.1",
"protein_id": "ENSP00000498895.1",
"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": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286192",
"gene_hgnc_id": null,
"hgvs_c": "n.*4913C>T",
"hgvs_p": null,
"transcript": "ENST00000651235.1",
"protein_id": "ENSP00000498895.1",
"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": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651235.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Ala741Val",
"transcript": "ENST00000853805.1",
"protein_id": "ENSP00000523864.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 741,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853805.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val",
"transcript": "ENST00000853807.1",
"protein_id": "ENSP00000523866.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 735,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853807.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_001013837.2",
"protein_id": "NP_001013859.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013837.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_001304523.2",
"protein_id": "NP_001291452.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304523.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_003550.3",
"protein_id": "NP_003541.2",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003550.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000399654.6",
"protein_id": "ENSP00000382562.2",
"transcript_support_level": 5,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399654.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853791.1",
"protein_id": "ENSP00000523850.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853791.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853792.1",
"protein_id": "ENSP00000523851.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853792.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853796.1",
"protein_id": "ENSP00000523855.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853796.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853798.1",
"protein_id": "ENSP00000523857.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853798.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853799.1",
"protein_id": "ENSP00000523858.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853799.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853800.1",
"protein_id": "ENSP00000523859.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853800.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000853803.1",
"protein_id": "ENSP00000523862.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853803.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000967144.1",
"protein_id": "ENSP00000637203.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967144.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000967148.1",
"protein_id": "ENSP00000637207.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967148.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000967149.1",
"protein_id": "ENSP00000637208.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967149.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Ala699Val",
"transcript": "ENST00000853793.1",
"protein_id": "ENSP00000523852.1",
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"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": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724919.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "n.*8C>T",
"hgvs_p": null,
"transcript": "ENST00000450235.5",
"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": 850,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000450235.5"
}
],
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"dbsnp": "rs748891291",
"frequency_reference_population": 0.000021126201,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000144117,
"gnomad_genomes_af": 0.0000853982,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09209635853767395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.2114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.845,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003550.3",
"gene_symbol": "MAD1L1",
"hgnc_id": 6762,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651235.1",
"gene_symbol": "ENSG00000286192",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*4913C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000724917.1",
"gene_symbol": "ENSG00000176349",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.308+1308G>A",
"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
}