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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: 1-1293676-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1293676&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1293676,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030649.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2393G>T",
"hgvs_p": "p.Arg798Leu",
"transcript": "NM_030649.3",
"protein_id": "NP_085152.2",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 834,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354700.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030649.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2393G>T",
"hgvs_p": "p.Arg798Leu",
"transcript": "ENST00000354700.10",
"protein_id": "ENSP00000346733.5",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 834,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030649.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354700.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2168G>T",
"hgvs_p": "p.Arg723Leu",
"transcript": "ENST00000353662.4",
"protein_id": "ENSP00000321139.4",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 759,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353662.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.1919G>T",
"hgvs_p": null,
"transcript": "ENST00000467278.5",
"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": "ENST00000467278.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.4033G>T",
"hgvs_p": null,
"transcript": "ENST00000492936.5",
"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": "ENST00000492936.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2630G>T",
"hgvs_p": "p.Arg877Leu",
"transcript": "ENST00000969101.1",
"protein_id": "ENSP00000639160.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 913,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969101.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2456G>T",
"hgvs_p": "p.Arg819Leu",
"transcript": "ENST00000969106.1",
"protein_id": "ENSP00000639165.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 855,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969106.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2453G>T",
"hgvs_p": "p.Arg818Leu",
"transcript": "ENST00000969105.1",
"protein_id": "ENSP00000639164.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 854,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969105.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2441G>T",
"hgvs_p": "p.Arg814Leu",
"transcript": "ENST00000892720.1",
"protein_id": "ENSP00000562779.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 850,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892720.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2423G>T",
"hgvs_p": "p.Arg808Leu",
"transcript": "ENST00000969102.1",
"protein_id": "ENSP00000639161.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 844,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969102.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2381G>T",
"hgvs_p": "p.Arg794Leu",
"transcript": "ENST00000892719.1",
"protein_id": "ENSP00000562778.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 830,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892719.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2354G>T",
"hgvs_p": "p.Arg785Leu",
"transcript": "ENST00000969109.1",
"protein_id": "ENSP00000639168.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 821,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969109.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2351G>T",
"hgvs_p": "p.Arg784Leu",
"transcript": "ENST00000969103.1",
"protein_id": "ENSP00000639162.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 820,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969103.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2327G>T",
"hgvs_p": "p.Arg776Leu",
"transcript": "ENST00000969104.1",
"protein_id": "ENSP00000639163.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 812,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969104.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2327G>T",
"hgvs_p": "p.Arg776Leu",
"transcript": "ENST00000969111.1",
"protein_id": "ENSP00000639170.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 812,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969111.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2324G>T",
"hgvs_p": "p.Arg775Leu",
"transcript": "ENST00000969100.1",
"protein_id": "ENSP00000639159.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 811,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969100.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2297G>T",
"hgvs_p": "p.Arg766Leu",
"transcript": "ENST00000969099.1",
"protein_id": "ENSP00000639158.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 802,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969099.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "ENST00000969110.1",
"protein_id": "ENSP00000639169.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 798,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969110.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Arg750Leu",
"transcript": "ENST00000969107.1",
"protein_id": "ENSP00000639166.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 786,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969107.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2219G>T",
"hgvs_p": "p.Arg740Leu",
"transcript": "ENST00000969108.1",
"protein_id": "ENSP00000639167.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 776,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969108.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2423G>T",
"hgvs_p": "p.Arg808Leu",
"transcript": "XM_011540606.3",
"protein_id": "XP_011538908.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 844,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540606.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2423G>T",
"hgvs_p": "p.Arg808Leu",
"transcript": "XM_011540607.2",
"protein_id": "XP_011538909.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 844,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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},
{
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],
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{
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"feature": "XM_005244715.3"
},
{
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],
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"gene_symbol": "ACAP3",
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"hgvs_p": "p.Arg457Leu",
"transcript": "XM_005244717.4",
"protein_id": "XP_005244774.1",
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"biotype": "protein_coding",
"feature": "XM_005244717.4"
}
],
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"dbsnp": "rs1640945597",
"frequency_reference_population": 0.0000068655854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00000686559,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46594250202178955,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.3519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.356,
"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_030649.3",
"gene_symbol": "ACAP3",
"hgnc_id": 16754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2393G>T",
"hgvs_p": "p.Arg798Leu"
}
],
"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
}