← Back to variant description
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: 19-43506873-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43506873&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43506873,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014297.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.742G>A",
"hgvs_p": "p.Gly248Arg",
"transcript": "NM_014297.5",
"protein_id": "NP_055112.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 254,
"cds_start": 742,
"cds_end": null,
"cds_length": 765,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 920,
"mane_select": "ENST00000292147.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.742G>A",
"hgvs_p": "p.Gly248Arg",
"transcript": "ENST00000292147.7",
"protein_id": "ENSP00000292147.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 254,
"cds_start": 742,
"cds_end": null,
"cds_length": 765,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 920,
"mane_select": "NM_014297.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.709G>A",
"hgvs_p": "p.Gly237Arg",
"transcript": "NM_001320867.2",
"protein_id": "NP_001307796.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 243,
"cds_start": 709,
"cds_end": null,
"cds_length": 732,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "NM_001320869.2",
"protein_id": "NP_001307798.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 156,
"cds_start": 448,
"cds_end": null,
"cds_length": 471,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.373G>A",
"hgvs_p": "p.Gly125Arg",
"transcript": "NM_001320868.2",
"protein_id": "NP_001307797.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 131,
"cds_start": 373,
"cds_end": null,
"cds_length": 396,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.661G>A",
"hgvs_p": "p.Gly221Arg",
"transcript": "XM_005258687.5",
"protein_id": "XP_005258744.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 227,
"cds_start": 661,
"cds_end": null,
"cds_length": 684,
"cdna_start": 926,
"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.*305G>A",
"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.*305G>A",
"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": "rs1472698495",
"frequency_reference_population": 6.8418547e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84185e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.869426965713501,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.848,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9572,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.948,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014297.5",
"gene_symbol": "ETHE1",
"hgnc_id": 23287,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Gly248Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}