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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: 2-26453454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26453454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26453454,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_145038.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1824G>A",
"hgvs_p": "p.Glu608Glu",
"transcript": "NM_145038.5",
"protein_id": "NP_659475.2",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 740,
"cds_start": 1824,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000288710.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145038.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1824G>A",
"hgvs_p": "p.Glu608Glu",
"transcript": "ENST00000288710.7",
"protein_id": "ENSP00000288710.2",
"transcript_support_level": 2,
"aa_start": 608,
"aa_end": null,
"aa_length": 740,
"cds_start": 1824,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_145038.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288710.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1749G>A",
"hgvs_p": "p.Glu583Glu",
"transcript": "ENST00000868388.1",
"protein_id": "ENSP00000538447.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 715,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868388.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Glu509Glu",
"transcript": "ENST00000941553.1",
"protein_id": "ENSP00000611612.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 641,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941553.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Glu268Glu",
"transcript": "XM_047446339.1",
"protein_id": "XP_047302295.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 400,
"cds_start": 804,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.554G>A",
"hgvs_p": null,
"transcript": "ENST00000439066.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000439066.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.*787G>A",
"hgvs_p": null,
"transcript": "ENST00000649059.1",
"protein_id": "ENSP00000497543.1",
"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": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.*787G>A",
"hgvs_p": null,
"transcript": "ENST00000649059.1",
"protein_id": "ENSP00000497543.1",
"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": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649059.1"
}
],
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"dbsnp": "rs1402962",
"frequency_reference_population": 0.0010054853,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1623,
"gnomad_exomes_af": 0.000566413,
"gnomad_genomes_af": 0.00521941,
"gnomad_exomes_ac": 828,
"gnomad_genomes_ac": 795,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_145038.5",
"gene_symbol": "DRC1",
"hgnc_id": 24245,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1824G>A",
"hgvs_p": "p.Glu608Glu"
}
],
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}