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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: 11-67645337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67645337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACY3",
"hgnc_id": 24104,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_080658.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.0703,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.024511784315109253,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 718,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_080658.2",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255082.8",
"protein_coding": true,
"protein_id": "NP_542389.1",
"strand": false,
"transcript": "NM_080658.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 718,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000255082.8",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080658.2",
"protein_coding": true,
"protein_id": "ENSP00000255082.3",
"strand": false,
"transcript": "ENST00000255082.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 734,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897124.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567183.1",
"strand": false,
"transcript": "ENST00000897124.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 764,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897125.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567184.1",
"strand": false,
"transcript": "ENST00000897125.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897126.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567185.1",
"strand": false,
"transcript": "ENST00000897126.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 800,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897128.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567187.1",
"strand": false,
"transcript": "ENST00000897128.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 702,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897129.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567188.1",
"strand": false,
"transcript": "ENST00000897129.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 747,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897130.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567189.1",
"strand": false,
"transcript": "ENST00000897130.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": 719,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897131.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567190.1",
"strand": false,
"transcript": "ENST00000897131.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 700,
"cds_end": null,
"cds_length": 954,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897127.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567186.1",
"strand": false,
"transcript": "ENST00000897127.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 888,
"cds_end": null,
"cds_length": 915,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897123.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567182.1",
"strand": false,
"transcript": "ENST00000897123.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 198,
"aa_ref": "R",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 426,
"cds_end": null,
"cds_length": 597,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529256.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434270.1",
"strand": false,
"transcript": "ENST00000529256.1",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 326,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 739,
"cds_end": null,
"cds_length": 981,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017018549.2",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874038.1",
"strand": false,
"transcript": "XM_017018549.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 326,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 773,
"cds_end": null,
"cds_length": 981,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017018550.2",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874039.1",
"strand": false,
"transcript": "XM_017018550.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 302,
"aa_ref": "R",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 695,
"cds_end": null,
"cds_length": 909,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017018551.2",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874040.1",
"strand": false,
"transcript": "XM_017018551.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 198,
"aa_ref": "R",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 580,
"cds_end": null,
"cds_length": 597,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047427868.1",
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283824.1",
"strand": false,
"transcript": "XM_047427868.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs771683337",
"effect": "missense_variant",
"frequency_reference_population": 0.00003656325,
"gene_hgnc_id": 24104,
"gene_symbol": "ACY3",
"gnomad_exomes_ac": 45,
"gnomad_exomes_af": 0.0000307914,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 14,
"gnomad_genomes_af": 0.0000919866,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.796,
"pos": 67645337,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.187,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_080658.2"
}
]
}