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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: 2-206144039-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206144039&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206144039,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000233190.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Ala322Ala",
"transcript": "NM_005006.7",
"protein_id": "NP_004997.4",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 727,
"cds_start": 966,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "ENST00000233190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Ala322Ala",
"transcript": "ENST00000233190.11",
"protein_id": "ENSP00000233190.5",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 727,
"cds_start": 966,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "NM_005006.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Ala336Ala",
"transcript": "NM_001199984.2",
"protein_id": "NP_001186913.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 741,
"cds_start": 1008,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 11670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Ala322Ala",
"transcript": "ENST00000449699.5",
"protein_id": "ENSP00000399912.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 727,
"cds_start": 966,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Ala286Ala",
"transcript": "NM_001199981.2",
"protein_id": "NP_001186910.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 691,
"cds_start": 858,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Ala286Ala",
"transcript": "ENST00000440274.5",
"protein_id": "ENSP00000409766.1",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 691,
"cds_start": 858,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Ala265Ala",
"transcript": "NM_001199983.2",
"protein_id": "NP_001186912.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 670,
"cds_start": 795,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 11568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Ala265Ala",
"transcript": "ENST00000423725.5",
"protein_id": "ENSP00000397760.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 670,
"cds_start": 795,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "NM_001199982.2",
"protein_id": "NP_001186911.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 616,
"cds_start": 633,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 11383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "ENST00000432169.5",
"protein_id": "ENSP00000409689.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 616,
"cds_start": 633,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"transcript": "ENST00000457011.5",
"protein_id": "ENSP00000400976.1",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 611,
"cds_start": 618,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"dbsnp": "rs1127566",
"frequency_reference_population": 0.000006824787,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000616533,
"gnomad_genomes_af": 0.0000131582,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.037,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000233190.11",
"gene_symbol": "NDUFS1",
"hgnc_id": 7707,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Ala322Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}