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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: 2-26448786-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26448786&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DRC1",
"hgnc_id": 24245,
"hgvs_c": "c.1492C>G",
"hgvs_p": "p.Leu498Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_145038.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 5657,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1922,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "2",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Primary ciliary dyskinesia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009733885526657104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 740,
"aa_ref": "L",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_145038.5",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.1492C>G",
"hgvs_p": "p.Leu498Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288710.7",
"protein_coding": true,
"protein_id": "NP_659475.2",
"strand": true,
"transcript": "NM_145038.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 740,
"aa_ref": "L",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000288710.7",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.1492C>G",
"hgvs_p": "p.Leu498Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145038.5",
"protein_coding": true,
"protein_id": "ENSP00000288710.2",
"strand": true,
"transcript": "ENST00000288710.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "L",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868388.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Leu473Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538447.1",
"strand": true,
"transcript": "ENST00000868388.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 641,
"aa_ref": "L",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941553.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Leu399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611612.1",
"strand": true,
"transcript": "ENST00000941553.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 400,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1203,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047446339.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Leu158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302295.1",
"strand": true,
"transcript": "XM_047446339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000439066.2",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.222C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439066.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000649059.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.*455C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497543.1",
"strand": true,
"transcript": "ENST00000649059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000649059.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.*455C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497543.1",
"strand": true,
"transcript": "ENST00000649059.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs143980408",
"effect": "missense_variant",
"frequency_reference_population": 0.0035045268,
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"gnomad_exomes_ac": 5211,
"gnomad_exomes_af": 0.00356474,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_ac": 446,
"gnomad_genomes_af": 0.00292689,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 14,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Primary ciliary dyskinesia|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.966,
"pos": 26448786,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.211,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145038.5"
}
]
}