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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: 22-20141427-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20141427&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20141427,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001185024.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "NM_013373.4",
"protein_id": "NP_037505.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 765,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334554.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013373.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "ENST00000334554.12",
"protein_id": "ENSP00000334490.7",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 765,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334554.12"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "NM_001185024.2",
"protein_id": "NP_001171953.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 778,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185024.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "ENST00000405930.3",
"protein_id": "ENSP00000384716.3",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 778,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405930.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Ala345Asp",
"transcript": "ENST00000924012.1",
"protein_id": "ENSP00000594071.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 769,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924012.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.962C>A",
"hgvs_p": "p.Ala321Asp",
"transcript": "ENST00000924015.1",
"protein_id": "ENSP00000594074.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 745,
"cds_start": 962,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924015.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.938C>A",
"hgvs_p": "p.Ala313Asp",
"transcript": "ENST00000924017.1",
"protein_id": "ENSP00000594076.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 737,
"cds_start": 938,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924017.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.914C>A",
"hgvs_p": "p.Ala305Asp",
"transcript": "ENST00000924014.1",
"protein_id": "ENSP00000594073.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 729,
"cds_start": 914,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924014.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.842C>A",
"hgvs_p": "p.Ala281Asp",
"transcript": "ENST00000924011.1",
"protein_id": "ENSP00000594070.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 705,
"cds_start": 842,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924011.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.746C>A",
"hgvs_p": "p.Ala249Asp",
"transcript": "ENST00000320602.11",
"protein_id": "ENSP00000317804.7",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 673,
"cds_start": 746,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320602.11"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Ala245Asp",
"transcript": "ENST00000924013.1",
"protein_id": "ENSP00000594072.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 669,
"cds_start": 734,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924013.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.662C>A",
"hgvs_p": "p.Ala221Asp",
"transcript": "ENST00000924018.1",
"protein_id": "ENSP00000594077.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 645,
"cds_start": 662,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924018.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "ENST00000924016.1",
"protein_id": "ENSP00000594075.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 469,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924016.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp",
"transcript": "XM_006724239.3",
"protein_id": "XP_006724302.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 778,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724239.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "n.419C>A",
"hgvs_p": null,
"transcript": "ENST00000468112.5",
"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": "ENST00000468112.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "n.574C>A",
"hgvs_p": null,
"transcript": "ENST00000472497.1",
"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": "retained_intron",
"feature": "ENST00000472497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"hgvs_c": "n.*101C>A",
"hgvs_p": null,
"transcript": "ENST00000469212.5",
"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": "retained_intron",
"feature": "ENST00000469212.5"
}
],
"gene_symbol": "ZDHHC8",
"gene_hgnc_id": 18474,
"dbsnp": "rs193920775",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84586e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08079192042350769,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.1274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.2,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001185024.2",
"gene_symbol": "ZDHHC8",
"hgnc_id": 18474,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ala341Asp"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}