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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: 22-36815119-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36815119&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36815119,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002854.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "NM_001315532.2",
"protein_id": "NP_001302461.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417718.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315532.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000417718.7",
"protein_id": "ENSP00000400247.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001315532.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417718.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000216200.9",
"protein_id": "ENSP00000216200.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216200.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "NM_002854.3",
"protein_id": "NP_002845.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002854.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000912200.1",
"protein_id": "ENSP00000582259.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912200.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000912201.1",
"protein_id": "ENSP00000582260.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912201.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000912202.1",
"protein_id": "ENSP00000582261.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912202.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000912203.1",
"protein_id": "ENSP00000582262.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 110,
"cds_start": 178,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912203.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.172G>C",
"hgvs_p": "p.Glu58Gln",
"transcript": "ENST00000406910.6",
"protein_id": "ENSP00000384735.2",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 105,
"cds_start": 172,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406910.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000443735.1",
"protein_id": "ENSP00000406977.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 100,
"cds_start": 178,
"cds_end": null,
"cds_length": 304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443735.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Glu28Gln",
"transcript": "ENST00000404171.1",
"protein_id": "ENSP00000386089.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 78,
"cds_start": 82,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"hgvs_c": "n.208G>C",
"hgvs_p": null,
"transcript": "ENST00000467935.1",
"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": "ENST00000467935.1"
}
],
"gene_symbol": "PVALB",
"gene_hgnc_id": 9704,
"dbsnp": "rs137928260",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8685283660888672,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.736,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4851,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.562,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002854.3",
"gene_symbol": "PVALB",
"hgnc_id": 9704,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}