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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: 19-43506853-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43506853&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43506853,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014297.5",
"consequences": [
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Ala254Ala",
"transcript": "NM_014297.5",
"protein_id": "NP_055112.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 254,
"cds_start": 762,
"cds_end": null,
"cds_length": 765,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 920,
"mane_select": "ENST00000292147.7",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Ala254Ala",
"transcript": "ENST00000292147.7",
"protein_id": "ENSP00000292147.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 254,
"cds_start": 762,
"cds_end": null,
"cds_length": 765,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 920,
"mane_select": "NM_014297.5",
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.729C>T",
"hgvs_p": "p.Ala243Ala",
"transcript": "NM_001320867.2",
"protein_id": "NP_001307796.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 243,
"cds_start": 729,
"cds_end": null,
"cds_length": 732,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 887,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.Ala156Ala",
"transcript": "NM_001320869.2",
"protein_id": "NP_001307798.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 156,
"cds_start": 468,
"cds_end": null,
"cds_length": 471,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 626,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Ala131Ala",
"transcript": "NM_001320868.2",
"protein_id": "NP_001307797.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 131,
"cds_start": 393,
"cds_end": null,
"cds_length": 396,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 771,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.681C>T",
"hgvs_p": "p.Ala227Ala",
"transcript": "XM_005258687.5",
"protein_id": "XP_005258744.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 227,
"cds_start": 681,
"cds_end": null,
"cds_length": 684,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1080,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*325C>T",
"hgvs_p": null,
"transcript": "ENST00000594342.5",
"protein_id": "ENSP00000469652.1",
"transcript_support_level": 2,
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*325C>T",
"hgvs_p": null,
"transcript": "ENST00000594342.5",
"protein_id": "ENSP00000469652.1",
"transcript_support_level": 2,
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"dbsnp": "rs777230548",
"frequency_reference_population": 0.000013686594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000136866,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.165,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_014297.5",
"gene_symbol": "ETHE1",
"hgnc_id": 23287,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Ala254Ala"
}
],
"clinvar_disease": "Ethylmalonic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Ethylmalonic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}