← Back to variant description
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: 1-1294135-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1294135&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1294135,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030649.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2204G>C",
"hgvs_p": "p.Arg735Pro",
"transcript": "NM_030649.3",
"protein_id": "NP_085152.2",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 834,
"cds_start": 2204,
"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": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2204G>C",
"hgvs_p": "p.Arg735Pro",
"transcript": "ENST00000354700.10",
"protein_id": "ENSP00000346733.5",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 834,
"cds_start": 2204,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1979G>C",
"hgvs_p": "p.Arg660Pro",
"transcript": "ENST00000353662.4",
"protein_id": "ENSP00000321139.4",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 759,
"cds_start": 1979,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.1730G>C",
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.3844G>C",
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Pro",
"transcript": "ENST00000969101.1",
"protein_id": "ENSP00000639160.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 913,
"cds_start": 2441,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2267G>C",
"hgvs_p": "p.Arg756Pro",
"transcript": "ENST00000969106.1",
"protein_id": "ENSP00000639165.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 855,
"cds_start": 2267,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2264G>C",
"hgvs_p": "p.Arg755Pro",
"transcript": "ENST00000969105.1",
"protein_id": "ENSP00000639164.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 854,
"cds_start": 2264,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2252G>C",
"hgvs_p": "p.Arg751Pro",
"transcript": "ENST00000892720.1",
"protein_id": "ENSP00000562779.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 850,
"cds_start": 2252,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2234G>C",
"hgvs_p": "p.Arg745Pro",
"transcript": "ENST00000969102.1",
"protein_id": "ENSP00000639161.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 844,
"cds_start": 2234,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2192G>C",
"hgvs_p": "p.Arg731Pro",
"transcript": "ENST00000892719.1",
"protein_id": "ENSP00000562778.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 830,
"cds_start": 2192,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2165G>C",
"hgvs_p": "p.Arg722Pro",
"transcript": "ENST00000969109.1",
"protein_id": "ENSP00000639168.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 821,
"cds_start": 2165,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Arg721Pro",
"transcript": "ENST00000969103.1",
"protein_id": "ENSP00000639162.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 820,
"cds_start": 2162,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2138G>C",
"hgvs_p": "p.Arg713Pro",
"transcript": "ENST00000969104.1",
"protein_id": "ENSP00000639163.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 812,
"cds_start": 2138,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2138G>C",
"hgvs_p": "p.Arg713Pro",
"transcript": "ENST00000969111.1",
"protein_id": "ENSP00000639170.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 812,
"cds_start": 2138,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Arg712Pro",
"transcript": "ENST00000969100.1",
"protein_id": "ENSP00000639159.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 811,
"cds_start": 2135,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2108G>C",
"hgvs_p": "p.Arg703Pro",
"transcript": "ENST00000969099.1",
"protein_id": "ENSP00000639158.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 802,
"cds_start": 2108,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "ENST00000969110.1",
"protein_id": "ENSP00000639169.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 798,
"cds_start": 2096,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "ENST00000969107.1",
"protein_id": "ENSP00000639166.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 786,
"cds_start": 2060,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2030G>C",
"hgvs_p": "p.Arg677Pro",
"transcript": "ENST00000969108.1",
"protein_id": "ENSP00000639167.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 776,
"cds_start": 2030,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2234G>C",
"hgvs_p": "p.Arg745Pro",
"transcript": "XM_011540606.3",
"protein_id": "XP_011538908.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 844,
"cds_start": 2234,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2234G>C",
"hgvs_p": "p.Arg745Pro",
"transcript": "XM_011540607.2",
"protein_id": "XP_011538909.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 844,
"cds_start": 2234,
"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_011540607.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2204G>C",
"hgvs_p": "p.Arg735Pro",
"transcript": "XM_024452993.2",
"protein_id": "XP_024308761.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 834,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452993.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2138G>C",
"hgvs_p": "p.Arg713Pro",
"transcript": "XM_011540608.3",
"protein_id": "XP_011538910.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 812,
"cds_start": 2138,
"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": "XM_011540608.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Arg712Pro",
"transcript": "XM_011540609.3",
"protein_id": "XP_011538911.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 811,
"cds_start": 2135,
"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": "XM_011540609.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "XM_005244715.3",
"protein_id": "XP_005244772.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 801,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244715.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1181G>C",
"hgvs_p": "p.Arg394Pro",
"transcript": "XM_005244717.4",
"protein_id": "XP_005244774.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 493,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244717.4"
}
],
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"dbsnp": "rs758335799",
"frequency_reference_population": 0.000006575054,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657505,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3630918562412262,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.6735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.088,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030649.3",
"gene_symbol": "ACAP3",
"hgnc_id": 16754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2204G>C",
"hgvs_p": "p.Arg735Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}