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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: 3-43605720-C-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43605720&ref=C&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 43605720,
"ref": "C",
"alt": "CTT",
"effect": "frameshift_variant",
"transcript": "NM_001346464.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "NM_018075.5",
"protein_id": "NP_060545.3",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292246.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018075.5"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000292246.8",
"protein_id": "ENSP00000292246.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018075.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292246.8"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000350459.8",
"protein_id": "ENSP00000327767.4",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 470,
"cds_start": 132,
"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": "ENST00000350459.8"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000970566.1",
"protein_id": "ENSP00000640625.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 711,
"cds_start": 132,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970566.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "NM_001346464.2",
"protein_id": "NP_001333393.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 699,
"cds_start": 132,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346464.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "NM_001346467.2",
"protein_id": "NP_001333396.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 699,
"cds_start": 132,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346467.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000920383.1",
"protein_id": "ENSP00000590442.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 688,
"cds_start": 132,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920383.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910683.1",
"protein_id": "ENSP00000580742.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 683,
"cds_start": 132,
"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": "ENST00000910683.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910688.1",
"protein_id": "ENSP00000580747.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 675,
"cds_start": 132,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910688.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000970567.1",
"protein_id": "ENSP00000640626.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 671,
"cds_start": 132,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970567.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000920386.1",
"protein_id": "ENSP00000590445.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 670,
"cds_start": 132,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920386.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "NM_001346463.2",
"protein_id": "NP_001333392.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346463.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "NM_001346468.2",
"protein_id": "NP_001333397.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346468.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910680.1",
"protein_id": "ENSP00000580739.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910680.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910681.1",
"protein_id": "ENSP00000580740.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910681.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910682.1",
"protein_id": "ENSP00000580741.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910682.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910692.1",
"protein_id": "ENSP00000580751.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910692.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000920381.1",
"protein_id": "ENSP00000590440.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920381.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000920390.1",
"protein_id": "ENSP00000590449.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920390.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000920391.1",
"protein_id": "ENSP00000590450.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920391.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000970565.1",
"protein_id": "ENSP00000640624.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 660,
"cds_start": 132,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970565.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs",
"transcript": "ENST00000910690.1",
"protein_id": "ENSP00000580749.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 644,
"cds_start": 132,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910690.1"
},
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},
{
"aa_ref": "K",
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"protein_coding": true,
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"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
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"gene_symbol": "ANO10",
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},
{
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],
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},
{
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"frameshift_variant"
],
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"gene_symbol": "ANO10",
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"transcript": "XM_047448435.1",
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.*15_*16dupAA",
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"transcript": "ENST00000436073.1",
"protein_id": "ENSP00000404988.1",
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"biotype": "protein_coding",
"feature": "ENST00000436073.1"
}
],
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"dbsnp": "rs540331226",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.089,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001346464.2",
"gene_symbol": "ANO10",
"hgnc_id": 25519,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.131_132dupAA",
"hgvs_p": "p.Asp45fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}