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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: 19-51346920-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51346920&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51346920,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000309244.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001985.3",
"protein_id": "NP_001976.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 255,
"cds_start": 577,
"cds_end": null,
"cds_length": 768,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 872,
"mane_select": "ENST00000309244.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000309244.9",
"protein_id": "ENSP00000311930.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 255,
"cds_start": 577,
"cds_end": null,
"cds_length": 768,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 872,
"mane_select": "NM_001985.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "ENST00000354232.8",
"protein_id": "ENSP00000346173.3",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 346,
"cds_start": 850,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "NM_001014763.1",
"protein_id": "NP_001014763.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 346,
"cds_start": 850,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Ala140Thr",
"transcript": "ENST00000596253.1",
"protein_id": "ENSP00000469628.1",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 177,
"cds_start": 418,
"cds_end": null,
"cds_length": 535,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Ala156Thr",
"transcript": "XM_024451418.2",
"protein_id": "XP_024307186.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 218,
"cds_start": 466,
"cds_end": null,
"cds_length": 657,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "n.1611G>A",
"hgvs_p": null,
"transcript": "ENST00000594361.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267984",
"gene_hgnc_id": null,
"hgvs_c": "n.78+1674C>T",
"hgvs_p": null,
"transcript": "ENST00000600974.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"dbsnp": "rs200186078",
"frequency_reference_population": 0.00010316955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 161,
"gnomad_exomes_af": 0.0000965753,
"gnomad_genomes_af": 0.000164139,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020046144723892212,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.676,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.159,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000309244.9",
"gene_symbol": "ETFB",
"hgnc_id": 3482,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr"
},
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600974.1",
"gene_symbol": "ENSG00000267984",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78+1674C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Multiple acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Multiple acyl-CoA dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}