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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: 9-128722034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128722034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128722034,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318015.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_032799.5",
"protein_id": "NP_116188.3",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 267,
"cds_start": 290,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372663.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032799.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000372663.9",
"protein_id": "ENSP00000361748.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 267,
"cds_start": 290,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032799.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372663.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Gln",
"transcript": "NM_001318015.2",
"protein_id": "NP_001304944.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 322,
"cds_start": 455,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318015.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Gln",
"transcript": "ENST00000935787.1",
"protein_id": "ENSP00000605846.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 321,
"cds_start": 455,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935787.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"transcript": "ENST00000372667.9",
"protein_id": "ENSP00000361752.5",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 281,
"cds_start": 332,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372667.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "ENST00000855474.1",
"protein_id": "ENSP00000525533.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 317,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855474.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_001318023.2",
"protein_id": "NP_001304952.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 266,
"cds_start": 290,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318023.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000855473.1",
"protein_id": "ENSP00000525532.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 266,
"cds_start": 290,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855473.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96Gln",
"transcript": "ENST00000855476.1",
"protein_id": "ENSP00000525535.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 266,
"cds_start": 287,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855476.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_001318016.2",
"protein_id": "NP_001304945.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 265,
"cds_start": 290,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318016.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96Gln",
"transcript": "ENST00000935785.1",
"protein_id": "ENSP00000605844.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 265,
"cds_start": 287,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935785.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000855475.1",
"protein_id": "ENSP00000525534.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 251,
"cds_start": 290,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855475.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000855472.1",
"protein_id": "ENSP00000525531.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 233,
"cds_start": 290,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855472.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96Gln",
"transcript": "ENST00000935786.1",
"protein_id": "ENSP00000605845.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 232,
"cds_start": 287,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935786.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_001318020.2",
"protein_id": "NP_001304949.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 227,
"cds_start": 290,
"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": "NM_001318020.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Gln",
"transcript": "ENST00000406904.2",
"protein_id": "ENSP00000384205.2",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 209,
"cds_start": 455,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406904.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000452105.5",
"protein_id": "ENSP00000387587.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 204,
"cds_start": 290,
"cds_end": null,
"cds_length": 616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452105.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Gln",
"transcript": "XM_011519116.3",
"protein_id": "XP_011517418.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 282,
"cds_start": 455,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519116.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "c.238-217G>A",
"hgvs_p": null,
"transcript": "ENST00000958715.1",
"protein_id": "ENSP00000628774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"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": "ENST00000958715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"hgvs_c": "n.1743G>A",
"hgvs_p": null,
"transcript": "ENST00000467312.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000467312.1"
}
],
"gene_symbol": "ZDHHC12",
"gene_hgnc_id": 19159,
"dbsnp": "rs563883264",
"frequency_reference_population": 0.000011152582,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000889341,
"gnomad_genomes_af": 0.0000328472,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2300829291343689,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.2129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.035,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318015.2",
"gene_symbol": "ZDHHC12",
"hgnc_id": 19159,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Gln"
}
],
"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
}