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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: 11-47242746-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47242746&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47242746,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001357016.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "NM_001610.4",
"protein_id": "NP_001601.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 423,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672073.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001610.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "ENST00000672073.1",
"protein_id": "ENSP00000500291.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 423,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001610.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672073.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "ENST00000256997.9",
"protein_id": "ENSP00000256997.3",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 423,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256997.9"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "NM_001357016.2",
"protein_id": "NP_001343945.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 434,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357016.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "ENST00000672636.2",
"protein_id": "ENSP00000500571.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 434,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672636.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1112T>G",
"hgvs_p": "p.Leu371Arg",
"transcript": "ENST00000897036.1",
"protein_id": "ENSP00000567095.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897036.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1112T>G",
"hgvs_p": "p.Leu371Arg",
"transcript": "ENST00000897037.1",
"protein_id": "ENSP00000567096.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897037.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1073T>G",
"hgvs_p": "p.Leu358Arg",
"transcript": "ENST00000919384.1",
"protein_id": "ENSP00000589443.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 409,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919384.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "ENST00000897033.1",
"protein_id": "ENSP00000567092.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 406,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897033.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg",
"transcript": "ENST00000897034.1",
"protein_id": "ENSP00000567093.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 406,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897034.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1031T>G",
"hgvs_p": "p.Leu344Arg",
"transcript": "NM_001302489.2",
"protein_id": "NP_001289418.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 395,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302489.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1031T>G",
"hgvs_p": "p.Leu344Arg",
"transcript": "ENST00000533929.7",
"protein_id": "ENSP00000432439.1",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 395,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533929.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1028T>G",
"hgvs_p": "p.Leu343Arg",
"transcript": "ENST00000897035.1",
"protein_id": "ENSP00000567094.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897035.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Leu340Arg",
"transcript": "NM_001302490.2",
"protein_id": "NP_001289419.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 391,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302490.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Leu340Arg",
"transcript": "ENST00000527256.7",
"protein_id": "ENSP00000432205.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 391,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527256.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.1010T>G",
"hgvs_p": "p.Leu337Arg",
"transcript": "ENST00000897038.1",
"protein_id": "ENSP00000567097.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 388,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897038.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Leu309Arg",
"transcript": "NM_001302491.2",
"protein_id": "NP_001289420.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 360,
"cds_start": 926,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302491.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Leu309Arg",
"transcript": "ENST00000529444.7",
"protein_id": "ENSP00000436658.1",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 360,
"cds_start": 926,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529444.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Arg",
"transcript": "ENST00000941444.1",
"protein_id": "ENSP00000611503.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 351,
"cds_start": 899,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941444.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "NM_001302492.2",
"protein_id": "NP_001289421.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 236,
"cds_start": 554,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302492.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.*588T>G",
"hgvs_p": null,
"transcript": "ENST00000672075.1",
"protein_id": "ENSP00000500836.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672075.1"
},
{
"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": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.569T>G",
"hgvs_p": null,
"transcript": "ENST00000672728.1",
"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": "ENST00000672728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.1452T>G",
"hgvs_p": null,
"transcript": "ENST00000673184.1",
"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": "retained_intron",
"feature": "ENST00000673184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.*588T>G",
"hgvs_p": null,
"transcript": "ENST00000672075.1",
"protein_id": "ENSP00000500836.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.193+2559T>G",
"hgvs_p": null,
"transcript": "ENST00000672351.1",
"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": "ENST00000672351.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.*100T>G",
"hgvs_p": null,
"transcript": "ENST00000673604.1",
"protein_id": "ENSP00000500179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673604.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.*566T>G",
"hgvs_p": null,
"transcript": "ENST00000673511.1",
"protein_id": "ENSP00000500010.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673511.1"
}
],
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"dbsnp": "rs1445865386",
"frequency_reference_population": 0.0000020526772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205268,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43087828159332275,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.0903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.736,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001357016.2",
"gene_symbol": "ACP2",
"hgnc_id": 123,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1115T>G",
"hgvs_p": "p.Leu372Arg"
}
],
"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
}