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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: 22-37832738-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37832738&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37832738,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138797.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.His243Tyr",
"transcript": "NM_138797.4",
"protein_id": "NP_620152.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 300,
"cds_start": 727,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215941.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138797.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.His243Tyr",
"transcript": "ENST00000215941.9",
"protein_id": "ENSP00000215941.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 300,
"cds_start": 727,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138797.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215941.9"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.His239Tyr",
"transcript": "ENST00000873384.1",
"protein_id": "ENSP00000543443.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 296,
"cds_start": 715,
"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": "ENST00000873384.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.His227Tyr",
"transcript": "ENST00000411961.6",
"protein_id": "ENSP00000405782.2",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 284,
"cds_start": 679,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411961.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "ENST00000957324.1",
"protein_id": "ENSP00000627383.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 280,
"cds_start": 667,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957324.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.His219Tyr",
"transcript": "ENST00000873383.1",
"protein_id": "ENSP00000543442.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 276,
"cds_start": 655,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873383.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.His210Tyr",
"transcript": "ENST00000873382.1",
"protein_id": "ENSP00000543441.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 267,
"cds_start": 628,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873382.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.His178Tyr",
"transcript": "NM_001349853.2",
"protein_id": "NP_001336782.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 235,
"cds_start": 532,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349853.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.His158Tyr",
"transcript": "ENST00000458278.6",
"protein_id": "ENSP00000412534.2",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 206,
"cds_start": 472,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458278.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "NM_001363839.1",
"protein_id": "NP_001350768.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 180,
"cds_start": 367,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363839.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000406423.5",
"protein_id": "ENSP00000384392.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 180,
"cds_start": 367,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406423.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.His50Tyr",
"transcript": "ENST00000609454.5",
"protein_id": "ENSP00000477088.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 107,
"cds_start": 148,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609454.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.859C>T",
"hgvs_p": "p.His287Tyr",
"transcript": "XM_011529877.3",
"protein_id": "XP_011528179.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 344,
"cds_start": 859,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529877.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.His222Tyr",
"transcript": "XM_047441138.1",
"protein_id": "XP_047297094.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 279,
"cds_start": 664,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441138.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.His150Tyr",
"transcript": "XM_006724136.2",
"protein_id": "XP_006724199.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 207,
"cds_start": 448,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724136.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.His145Tyr",
"transcript": "XM_047441140.1",
"protein_id": "XP_047297096.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 202,
"cds_start": 433,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441140.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.His137Tyr",
"transcript": "XM_047441141.1",
"protein_id": "XP_047297097.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 194,
"cds_start": 409,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441141.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "XM_011529882.3",
"protein_id": "XP_011528184.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 180,
"cds_start": 367,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529882.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.328C>T",
"hgvs_p": null,
"transcript": "ENST00000407117.6",
"protein_id": "ENSP00000385180.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000407117.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "ENST00000464849.5",
"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": "ENST00000464849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.1140C>T",
"hgvs_p": null,
"transcript": "ENST00000498417.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000498417.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.931C>T",
"hgvs_p": null,
"transcript": "NR_036556.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036556.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.931C>T",
"hgvs_p": null,
"transcript": "NR_146279.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "NR_146280.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"hgvs_c": "c.*333C>T",
"hgvs_p": null,
"transcript": "XM_047441139.1",
"protein_id": "XP_047297095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441139.1"
}
],
"gene_symbol": "ANKRD54",
"gene_hgnc_id": 25185,
"dbsnp": "rs141091823",
"frequency_reference_population": 0.00021623404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 349,
"gnomad_exomes_af": 0.000233271,
"gnomad_genomes_af": 0.0000525721,
"gnomad_exomes_ac": 341,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2672477066516876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.1379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.456,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_138797.4",
"gene_symbol": "ANKRD54",
"hgnc_id": 25185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.His243Tyr"
}
],
"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
}