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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: 1-161193247-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161193247&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161193247,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001320336.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg",
"transcript": "NM_005099.6",
"protein_id": "NP_005090.3",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 837,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367996.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005099.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg",
"transcript": "ENST00000367996.6",
"protein_id": "ENSP00000356975.4",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 837,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367996.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg",
"transcript": "NM_001320336.3",
"protein_id": "NP_001307265.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 846,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320336.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg",
"transcript": "ENST00000926274.1",
"protein_id": "ENSP00000596333.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 839,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926274.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg",
"transcript": "ENST00000926273.1",
"protein_id": "ENSP00000596332.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 837,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926273.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1703A>G",
"hgvs_p": "p.Gln568Arg",
"transcript": "ENST00000960127.1",
"protein_id": "ENSP00000630186.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 779,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960127.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Gln518Arg",
"transcript": "ENST00000960126.1",
"protein_id": "ENSP00000630185.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 729,
"cds_start": 1553,
"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": "ENST00000960126.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.1735+393A>G",
"hgvs_p": null,
"transcript": "XM_047434904.1",
"protein_id": "XP_047290860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": null,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434904.1"
}
],
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"dbsnp": "rs4233367",
"frequency_reference_population": 0.62649715,
"hom_count_reference_population": 320657,
"allele_count_reference_population": 1010783,
"gnomad_exomes_af": 0.626682,
"gnomad_genomes_af": 0.624722,
"gnomad_exomes_ac": 915809,
"gnomad_genomes_ac": 94974,
"gnomad_exomes_homalt": 290652,
"gnomad_genomes_homalt": 30005,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.153450726742449e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0534,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.14,
"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": -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": "NM_001320336.3",
"gene_symbol": "ADAMTS4",
"hgnc_id": 220,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Gln626Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}