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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: 22-37491855-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37491855&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37491855,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014550.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2764C>A",
"hgvs_p": "p.Leu922Met",
"transcript": "NM_014550.4",
"protein_id": "NP_055365.2",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251973.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014550.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2764C>A",
"hgvs_p": "p.Leu922Met",
"transcript": "ENST00000251973.10",
"protein_id": "ENSP00000251973.5",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014550.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251973.10"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2827C>A",
"hgvs_p": "p.Leu943Met",
"transcript": "ENST00000902144.1",
"protein_id": "ENSP00000572203.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902144.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2767C>A",
"hgvs_p": "p.Leu923Met",
"transcript": "ENST00000902142.1",
"protein_id": "ENSP00000572201.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902142.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2764C>A",
"hgvs_p": "p.Leu922Met",
"transcript": "ENST00000403299.5",
"protein_id": "ENSP00000384570.1",
"transcript_support_level": 5,
"aa_start": 922,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403299.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.2608C>A",
"hgvs_p": "p.Leu870Met",
"transcript": "ENST00000902143.1",
"protein_id": "ENSP00000572202.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 980,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902143.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "c.1906C>A",
"hgvs_p": "p.Leu636Met",
"transcript": "ENST00000406271.7",
"protein_id": "ENSP00000385799.3",
"transcript_support_level": 2,
"aa_start": 636,
"aa_end": null,
"aa_length": 746,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406271.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "n.779C>A",
"hgvs_p": null,
"transcript": "ENST00000467812.1",
"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": "ENST00000467812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"hgvs_c": "n.1037C>A",
"hgvs_p": null,
"transcript": "ENST00000488141.5",
"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": "ENST00000488141.5"
}
],
"gene_symbol": "CARD10",
"gene_hgnc_id": 16422,
"dbsnp": "rs367817035",
"frequency_reference_population": 0.000006633059,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00000663306,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7920482754707336,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5288,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014550.4",
"gene_symbol": "CARD10",
"hgnc_id": 16422,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2764C>A",
"hgvs_p": "p.Leu922Met"
}
],
"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
}