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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: 19-9251667-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9251667&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9251667,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000456448.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.624C>A",
"hgvs_p": "p.Ser208Ser",
"transcript": "NM_001079935.2",
"protein_id": "NP_001073404.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 339,
"cds_start": 624,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": "ENST00000456448.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.624C>A",
"hgvs_p": "p.Ser208Ser",
"transcript": "ENST00000456448.3",
"protein_id": "ENSP00000387523.1",
"transcript_support_level": 6,
"aa_start": 208,
"aa_end": null,
"aa_length": 339,
"cds_start": 624,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": "NM_001079935.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ser204Ser",
"transcript": "NM_001386108.1",
"protein_id": "NP_001373037.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 335,
"cds_start": 612,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000641946.1",
"protein_id": "ENSP00000494223.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 335,
"cds_start": 612,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Ser213Ser",
"transcript": "XM_047438594.1",
"protein_id": "XP_047294550.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 344,
"cds_start": 639,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.591C>A",
"hgvs_p": "p.Ser197Ser",
"transcript": "XM_047438595.1",
"protein_id": "XP_047294551.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 328,
"cds_start": 591,
"cds_end": null,
"cds_length": 987,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Ser157Ser",
"transcript": "XM_047438596.1",
"protein_id": "XP_047294552.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 288,
"cds_start": 471,
"cds_end": null,
"cds_length": 867,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Ser157Ser",
"transcript": "XM_047438597.1",
"protein_id": "XP_047294553.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 288,
"cds_start": 471,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Ser157Ser",
"transcript": "XM_047438598.1",
"protein_id": "XP_047294554.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 288,
"cds_start": 471,
"cds_end": null,
"cds_length": 867,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OR7E24",
"gene_hgnc_id": 8396,
"dbsnp": "rs2240927",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.476,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000456448.3",
"gene_symbol": "OR7E24",
"hgnc_id": 8396,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.624C>A",
"hgvs_p": "p.Ser208Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}