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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: 6-32212907-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32212907&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32212907,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004557.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "c.2443T>G",
"hgvs_p": "p.Cys815Gly",
"transcript": "NM_004557.4",
"protein_id": "NP_004548.3",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 2003,
"cds_start": 2443,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 6745,
"mane_select": "ENST00000375023.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004557.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "c.2443T>G",
"hgvs_p": "p.Cys815Gly",
"transcript": "ENST00000375023.3",
"protein_id": "ENSP00000364163.3",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 2003,
"cds_start": 2443,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 6745,
"mane_select": "NM_004557.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375023.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "c.2443T>G",
"hgvs_p": "p.Cys815Gly",
"transcript": "ENST00000883244.1",
"protein_id": "ENSP00000553303.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 2000,
"cds_start": 2443,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 6780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883244.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "c.2320T>G",
"hgvs_p": "p.Cys774Gly",
"transcript": "ENST00000883245.1",
"protein_id": "ENSP00000553304.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1959,
"cds_start": 2320,
"cds_end": null,
"cds_length": 5880,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883245.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "c.2209T>G",
"hgvs_p": "p.Cys737Gly",
"transcript": "ENST00000883246.1",
"protein_id": "ENSP00000553305.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1922,
"cds_start": 2209,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "n.2684T>G",
"hgvs_p": null,
"transcript": "NR_134949.2",
"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": 6314,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134949.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "n.2582T>G",
"hgvs_p": null,
"transcript": "NR_134950.2",
"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": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134950.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"hgvs_c": "n.399+228T>G",
"hgvs_p": null,
"transcript": "ENST00000465528.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465528.1"
}
],
"gene_symbol": "NOTCH4",
"gene_hgnc_id": 7884,
"dbsnp": "rs150079294",
"frequency_reference_population": 0.0043623387,
"hom_count_reference_population": 33,
"allele_count_reference_population": 6822,
"gnomad_exomes_af": 0.00440912,
"gnomad_genomes_af": 0.00392847,
"gnomad_exomes_ac": 6224,
"gnomad_genomes_ac": 598,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030241012573242188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.937,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8697,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.551,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004557.4",
"gene_symbol": "NOTCH4",
"hgnc_id": 7884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2443T>G",
"hgvs_p": "p.Cys815Gly"
}
],
"clinvar_disease": "Anophthalmia-microphthalmia syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Anophthalmia-microphthalmia syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}