← 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: 20-25306909-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25306909&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25306909,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_015600.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "NM_001042472.3",
"protein_id": "NP_001035937.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 398,
"cds_start": 874,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339157.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042472.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "ENST00000339157.10",
"protein_id": "ENSP00000341408.5",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 398,
"cds_start": 874,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042472.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339157.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "ENST00000376542.8",
"protein_id": "ENSP00000365725.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 404,
"cds_start": 874,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376542.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "ENST00000969645.1",
"protein_id": "ENSP00000639704.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 418,
"cds_start": 874,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969645.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "NM_015600.5",
"protein_id": "NP_056415.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 404,
"cds_start": 874,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015600.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288*",
"transcript": "ENST00000851165.1",
"protein_id": "ENSP00000521224.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 394,
"cds_start": 862,
"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": "ENST00000851165.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282*",
"transcript": "ENST00000938982.1",
"protein_id": "ENSP00000609041.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 388,
"cds_start": 844,
"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": "ENST00000938982.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264*",
"transcript": "ENST00000938980.1",
"protein_id": "ENSP00000609039.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 370,
"cds_start": 790,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938980.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236*",
"transcript": "ENST00000969644.1",
"protein_id": "ENSP00000639703.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 342,
"cds_start": 706,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969644.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "ENST00000969646.1",
"protein_id": "ENSP00000639705.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 329,
"cds_start": 874,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969646.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191*",
"transcript": "ENST00000851164.1",
"protein_id": "ENSP00000521223.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 297,
"cds_start": 571,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851164.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000671858.1",
"protein_id": "ENSP00000500550.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 295,
"cds_start": 328,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671858.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"transcript": "ENST00000938981.1",
"protein_id": "ENSP00000609040.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 289,
"cds_start": 547,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938981.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144*",
"transcript": "ENST00000673121.1",
"protein_id": "ENSP00000499839.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 250,
"cds_start": 430,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673121.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135*",
"transcript": "ENST00000672566.1",
"protein_id": "ENSP00000500106.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 241,
"cds_start": 403,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672566.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000672358.1",
"protein_id": "ENSP00000500062.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 228,
"cds_start": 328,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672358.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000672596.1",
"protein_id": "ENSP00000500290.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 227,
"cds_start": 328,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672596.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000673227.1",
"protein_id": "ENSP00000500514.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 210,
"cds_start": 328,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673227.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Arg60*",
"transcript": "ENST00000576316.5",
"protein_id": "ENSP00000459121.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 194,
"cds_start": 178,
"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": "ENST00000576316.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000672258.1",
"protein_id": "ENSP00000499868.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 179,
"cds_start": 328,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672258.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000671784.1",
"protein_id": "ENSP00000500451.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 176,
"cds_start": 328,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671784.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000672114.1",
"protein_id": "ENSP00000499945.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 169,
"cds_start": 328,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672114.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135*",
"transcript": "ENST00000491682.5",
"protein_id": "ENSP00000459495.1",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 158,
"cds_start": 403,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491682.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000672871.1",
"protein_id": "ENSP00000499949.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 153,
"cds_start": 328,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672871.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "ENST00000673094.1",
"protein_id": "ENSP00000500257.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 151,
"cds_start": 328,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673094.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "XM_047440087.1",
"protein_id": "XP_047296043.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 426,
"cds_start": 874,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440087.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "XM_011529214.3",
"protein_id": "XP_011527516.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 392,
"cds_start": 874,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529214.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247*",
"transcript": "XM_047440088.1",
"protein_id": "XP_047296044.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 381,
"cds_start": 739,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440088.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247*",
"transcript": "XM_047440089.1",
"protein_id": "XP_047296045.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 353,
"cds_start": 739,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440089.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*",
"transcript": "XM_047440090.1",
"protein_id": "XP_047296046.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 351,
"cds_start": 874,
"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": "XM_047440090.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135*",
"transcript": "XM_047440091.1",
"protein_id": "XP_047296047.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 269,
"cds_start": 403,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440091.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135*",
"transcript": "XM_047440092.1",
"protein_id": "XP_047296048.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 269,
"cds_start": 403,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440092.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135*",
"transcript": "XM_047440093.1",
"protein_id": "XP_047296049.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 241,
"cds_start": 403,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440093.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Arg73*",
"transcript": "XM_047440094.1",
"protein_id": "XP_047296050.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 207,
"cds_start": 217,
"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_047440094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.423-3281C>T",
"hgvs_p": null,
"transcript": "ENST00000851166.1",
"protein_id": "ENSP00000521225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851166.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.328C>T",
"hgvs_p": null,
"transcript": "ENST00000465694.2",
"protein_id": "ENSP00000459278.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000465694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.528C>T",
"hgvs_p": null,
"transcript": "ENST00000481556.1",
"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": "ENST00000481556.1"
},
{
"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": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"transcript": "ENST00000672001.1",
"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": "ENST00000672001.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.*213C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"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": "ENST00000672406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000673524.1",
"protein_id": "ENSP00000500316.1",
"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": "ENST00000673524.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.*213C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"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": "ENST00000672406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000673524.1",
"protein_id": "ENSP00000500316.1",
"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": "ENST00000673524.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.321+1057C>T",
"hgvs_p": null,
"transcript": "ENST00000672331.1",
"protein_id": "ENSP00000500286.1",
"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": "ENST00000672331.1"
}
],
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"dbsnp": "rs776800006",
"frequency_reference_population": 0.000008081783,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000823968,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.9,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015600.5",
"gene_symbol": "ABHD12",
"hgnc_id": 15868,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292*"
}
],
"clinvar_disease": "PHARC syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "not provided|PHARC syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}