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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: 1-222943005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=222943005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 222943005,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001350630.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "NM_001377229.1",
"protein_id": "NP_001364158.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675850.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377229.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000675850.1",
"protein_id": "ENSP00000502357.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377229.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675850.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000284476.7",
"protein_id": "ENSP00000284476.6",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284476.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.329C>T",
"hgvs_p": null,
"transcript": "ENST00000482856.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000482856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.-706C>T",
"hgvs_p": null,
"transcript": "NM_001350630.2",
"protein_id": "NP_001337559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": null,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350630.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.-664C>T",
"hgvs_p": null,
"transcript": "XM_006711594.4",
"protein_id": "XP_006711657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": null,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711594.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.-833C>T",
"hgvs_p": null,
"transcript": "XM_017002612.2",
"protein_id": "XP_016858101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": null,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.-570C>T",
"hgvs_p": null,
"transcript": "XM_047432774.1",
"protein_id": "XP_047288730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": null,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432774.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900747.1",
"protein_id": "ENSP00000570806.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1533,
"cds_start": 182,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900747.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "NM_001369594.1",
"protein_id": "NP_001356523.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369594.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "NM_001377228.1",
"protein_id": "NP_001364157.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377228.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "NM_032890.5",
"protein_id": "NP_116279.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032890.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000675961.1",
"protein_id": "ENSP00000501808.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675961.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900733.1",
"protein_id": "ENSP00000570792.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900733.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900734.1",
"protein_id": "ENSP00000570793.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900734.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900735.1",
"protein_id": "ENSP00000570794.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900735.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900736.1",
"protein_id": "ENSP00000570795.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900736.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900737.1",
"protein_id": "ENSP00000570796.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900737.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900738.1",
"protein_id": "ENSP00000570797.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900738.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900739.1",
"protein_id": "ENSP00000570798.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900739.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900740.1",
"protein_id": "ENSP00000570799.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900740.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"transcript": "ENST00000900741.1",
"protein_id": "ENSP00000570800.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1524,
"cds_start": 182,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
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"feature": "XM_017002612.2"
},
{
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},
{
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"feature": "ENST00000495684.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "DISP1",
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"biotype": "pseudogene",
"feature": "ENST00000360254.3"
},
{
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"protein_coding": false,
"strand": true,
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],
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"feature": "ENST00000676139.1"
},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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{
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"intron_variant"
],
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"biotype": "nonsense_mediated_decay",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "DISP1",
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"transcript": "ENST00000674736.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674736.1"
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],
"gene_symbol": "DISP1",
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"dbsnp": "rs146408462",
"frequency_reference_population": 0.00010841311,
"hom_count_reference_population": 0,
"allele_count_reference_population": 175,
"gnomad_exomes_af": 0.000106711,
"gnomad_genomes_af": 0.00012475,
"gnomad_exomes_ac": 156,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06258243322372437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.432,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001350630.2",
"gene_symbol": "DISP1",
"hgnc_id": 19711,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.-706C>T",
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}
],
"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
}