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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: 1-167868736-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167868736&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167868736,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367851.9",
"consequences": [
{
"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": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "NM_018417.6",
"protein_id": "NP_060887.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": "ENST00000367851.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "ENST00000367851.9",
"protein_id": "ENSP00000356825.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": "NM_018417.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1340+1521T>C",
"hgvs_p": null,
"transcript": "ENST00000367848.1",
"protein_id": "ENSP00000356822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1340+1521T>C",
"hgvs_p": null,
"transcript": "NM_001297772.2",
"protein_id": "NP_001284701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1157+1521T>C",
"hgvs_p": null,
"transcript": "NM_001167749.3",
"protein_id": "NP_001161221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1157+1521T>C",
"hgvs_p": null,
"transcript": "ENST00000545172.5",
"protein_id": "ENSP00000441992.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_011509760.4",
"protein_id": "XP_011508062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1472+1521T>C",
"hgvs_p": null,
"transcript": "XM_011509762.4",
"protein_id": "XP_011508064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1562,
"cds_start": -4,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_011509763.4",
"protein_id": "XP_011508065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": -4,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_006711449.5",
"protein_id": "XP_006711512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1547,
"cds_start": -4,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_047425153.1",
"protein_id": "XP_047281109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_017001778.3",
"protein_id": "XP_016857267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": -4,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_005245330.6",
"protein_id": "XP_005245387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null,
"transcript": "XM_011509766.4",
"protein_id": "XP_011508068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": -4,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.-345+4898A>G",
"hgvs_p": null,
"transcript": "XM_047425194.1",
"protein_id": "XP_047281150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"dbsnp": "rs203818",
"frequency_reference_population": 0.43180624,
"hom_count_reference_population": 17695,
"allele_count_reference_population": 65695,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.431806,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 65695,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 17695,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.045,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367851.9",
"gene_symbol": "ADCY10",
"hgnc_id": 21285,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1616+1521T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_047425194.1",
"gene_symbol": "DCAF6",
"hgnc_id": 30002,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-345+4898A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}