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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: 10-27038058-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27038058&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27038058,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_014915.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2376-4G>A",
"hgvs_p": null,
"transcript": "NM_014915.3",
"protein_id": "NP_055730.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": -4,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000376087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2376-4G>A",
"hgvs_p": null,
"transcript": "ENST00000376087.5",
"protein_id": "ENSP00000365255.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": -4,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_014915.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2373-4G>A",
"hgvs_p": null,
"transcript": "ENST00000436985.7",
"protein_id": "ENSP00000405112.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": -4,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2373-4G>A",
"hgvs_p": null,
"transcript": "NM_001256053.2",
"protein_id": "NP_001242982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": -4,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.574-4G>A",
"hgvs_p": null,
"transcript": "ENST00000490015.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.24-4G>A",
"hgvs_p": null,
"transcript": "ENST00000675116.1",
"protein_id": "ENSP00000501975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.2105-4G>A",
"hgvs_p": null,
"transcript": "ENST00000675349.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.2082-4G>A",
"hgvs_p": null,
"transcript": "ENST00000676232.1",
"protein_id": "ENSP00000501607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.*2193-4G>A",
"hgvs_p": null,
"transcript": "ENST00000676420.1",
"protein_id": "ENSP00000502355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_017015928.2",
"protein_id": "XP_016871417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
"cds_end": null,
"cds_length": 6339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_047424821.1",
"protein_id": "XP_047280777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7997,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_047424822.1",
"protein_id": "XP_047280778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3450-4G>A",
"hgvs_p": null,
"transcript": "XM_017015929.2",
"protein_id": "XP_016871418.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
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"transcript": "XM_006717423.3",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3459-4G>A",
"hgvs_p": null,
"transcript": "XM_047424824.1",
"protein_id": "XP_047280780.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 22,
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"gene_symbol": "ANKRD26",
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"hgvs_c": "c.3462-4G>A",
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"transcript": "XM_011519416.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_047424825.1",
"protein_id": "XP_047280781.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_006717425.5",
"protein_id": "XP_006717488.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
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"transcript": "XM_017015932.2",
"protein_id": "XP_016871421.1",
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},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.3462-4G>A",
"hgvs_p": null,
"transcript": "XM_047424826.1",
"protein_id": "XP_047280782.1",
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 20,
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"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2274-4G>A",
"hgvs_p": null,
"transcript": "XM_047424827.1",
"protein_id": "XP_047280783.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2376-4G>A",
"hgvs_p": null,
"transcript": "XM_047424828.1",
"protein_id": "XP_047280784.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1669,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "ANKRD26",
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"hgvs_c": "c.3462-4G>A",
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"transcript": "XM_047424831.1",
"protein_id": "XP_047280787.1",
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"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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"exon_count": 34,
"intron_rank": 20,
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"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.2274-4G>A",
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"transcript": "XM_047424832.1",
"protein_id": "XP_047280788.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1635,
"cds_start": -4,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
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"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"dbsnp": "rs75445709",
"frequency_reference_population": 0.0039329124,
"hom_count_reference_population": 225,
"allele_count_reference_population": 6314,
"gnomad_exomes_af": 0.00216065,
"gnomad_genomes_af": 0.0208593,
"gnomad_exomes_ac": 3140,
"gnomad_genomes_ac": 3174,
"gnomad_exomes_homalt": 108,
"gnomad_genomes_homalt": 117,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.04600000008940697,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.566,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0012679516046892,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014915.3",
"gene_symbol": "ANKRD26",
"hgnc_id": 29186,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2376-4G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Thrombocytopenia 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Thrombocytopenia 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}