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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: 22-43212440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=43212440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 43212440,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173050.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Asp736Asn",
"transcript": "NM_173050.5",
"protein_id": "NP_766638.2",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 988,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360835.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173050.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Asp736Asn",
"transcript": "ENST00000360835.9",
"protein_id": "ENSP00000354080.3",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 988,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173050.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360835.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Asp715Asn",
"transcript": "ENST00000911327.1",
"protein_id": "ENSP00000581386.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 967,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911327.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Asp715Asn",
"transcript": "ENST00000911329.1",
"protein_id": "ENSP00000581388.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 967,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911329.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Asp693Asn",
"transcript": "ENST00000954506.1",
"protein_id": "ENSP00000624565.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 945,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954506.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Asp682Asn",
"transcript": "ENST00000911328.1",
"protein_id": "ENSP00000581387.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 934,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911328.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Asp655Asn",
"transcript": "ENST00000911326.1",
"protein_id": "ENSP00000581385.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 907,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1-AS2",
"gene_hgnc_id": 40633,
"hgvs_c": "n.-234C>T",
"hgvs_p": null,
"transcript": "ENST00000420269.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000420269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE1-AS2",
"gene_hgnc_id": 40633,
"hgvs_c": "n.-234C>T",
"hgvs_p": null,
"transcript": "NR_134632.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_134632.1"
}
],
"gene_symbol": "SCUBE1",
"gene_hgnc_id": 13441,
"dbsnp": "rs570778063",
"frequency_reference_population": 0.000020622463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000207236,
"gnomad_genomes_af": 0.0000196936,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5777143239974976,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.1165,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.494,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173050.5",
"gene_symbol": "SCUBE1",
"hgnc_id": 13441,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Asp736Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420269.1",
"gene_symbol": "SCUBE1-AS2",
"hgnc_id": 40633,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-234C>T",
"hgvs_p": null
}
],
"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
}