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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: 3-51986993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51986993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51986993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000636358.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "NM_000666.3",
"protein_id": "NP_000657.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 408,
"cds_start": 589,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": "ENST00000636358.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "ENST00000636358.2",
"protein_id": "ENSP00000490149.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 408,
"cds_start": 589,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": "NM_000666.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Trp",
"transcript": "ENST00000463937.1",
"protein_id": "ENSP00000420487.1",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 509,
"cds_start": 892,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "ENST00000404366.7",
"protein_id": "ENSP00000384296.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 408,
"cds_start": 589,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386Trp",
"transcript": "ENST00000637978.1",
"protein_id": "ENSP00000490744.1",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 584,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1756,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Arg287Trp",
"transcript": "NM_001316331.2",
"protein_id": "NP_001303260.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 498,
"cds_start": 859,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "NM_001198895.2",
"protein_id": "NP_001185824.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 408,
"cds_start": 589,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Trp",
"transcript": "NM_001198898.2",
"protein_id": "NP_001185827.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 373,
"cds_start": 484,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Trp",
"transcript": "ENST00000476351.5",
"protein_id": "ENSP00000417056.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 373,
"cds_start": 484,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Trp",
"transcript": "ENST00000635797.1",
"protein_id": "ENSP00000490007.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 373,
"cds_start": 484,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "NM_001198897.2",
"protein_id": "NP_001185826.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 343,
"cds_start": 589,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "ENST00000476854.5",
"protein_id": "ENSP00000419262.1",
"transcript_support_level": 3,
"aa_start": 197,
"aa_end": null,
"aa_length": 343,
"cds_start": 589,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_001198896.2",
"protein_id": "NP_001185825.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 336,
"cds_start": 373,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000494103.5",
"protein_id": "ENSP00000417618.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 336,
"cds_start": 373,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "ENST00000637222.1",
"protein_id": "ENSP00000490353.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 274,
"cds_start": 589,
"cds_end": null,
"cds_length": 827,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Trp",
"transcript": "ENST00000635952.1",
"protein_id": "ENSP00000490434.1",
"transcript_support_level": 3,
"aa_start": 226,
"aa_end": null,
"aa_length": 263,
"cds_start": 676,
"cds_end": null,
"cds_length": 794,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000469863.1",
"protein_id": "ENSP00000419830.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 227,
"cds_start": 616,
"cds_end": null,
"cds_length": 684,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*500C>T",
"hgvs_p": null,
"transcript": "ENST00000463721.5",
"protein_id": "ENSP00000417688.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.275C>T",
"hgvs_p": null,
"transcript": "ENST00000464587.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.662C>T",
"hgvs_p": null,
"transcript": "ENST00000465121.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*435C>T",
"hgvs_p": null,
"transcript": "ENST00000486081.6",
"protein_id": "ENSP00000420395.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*500C>T",
"hgvs_p": null,
"transcript": "ENST00000635785.1",
"protein_id": "ENSP00000490574.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*761C>T",
"hgvs_p": null,
"transcript": "ENST00000635937.1",
"protein_id": "ENSP00000489887.1",
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aminoacylase 1 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}