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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: 4-73416339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73416339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73416339,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000295897.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Tyr425Tyr",
"transcript": "NM_000477.7",
"protein_id": "NP_000468.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 609,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "ENST00000295897.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Tyr425Tyr",
"transcript": "ENST00000295897.9",
"protein_id": "ENSP00000295897.4",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 609,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "NM_000477.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Tyr233Tyr",
"transcript": "ENST00000415165.6",
"protein_id": "ENSP00000401820.2",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 417,
"cds_start": 699,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Tyr425Tyr",
"transcript": "ENST00000509063.5",
"protein_id": "ENSP00000422784.1",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 604,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000401494.7",
"protein_id": "ENSP00000384695.3",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 494,
"cds_start": 930,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Tyr275Tyr",
"transcript": "ENST00000503124.5",
"protein_id": "ENSP00000421027.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 459,
"cds_start": 825,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Tyr269Tyr",
"transcript": "ENST00000511370.1",
"protein_id": "ENSP00000426179.1",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 453,
"cds_start": 807,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.*554C>T",
"hgvs_p": null,
"transcript": "ENST00000476441.6",
"protein_id": "ENSP00000423727.1",
"transcript_support_level": 5,
"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": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "ENST00000484992.1",
"protein_id": null,
"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": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.961C>T",
"hgvs_p": null,
"transcript": "ENST00000505649.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.*554C>T",
"hgvs_p": null,
"transcript": "ENST00000476441.6",
"protein_id": "ENSP00000423727.1",
"transcript_support_level": 5,
"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": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"dbsnp": "rs281860283",
"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": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.782,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295897.9",
"gene_symbol": "ALB",
"hgnc_id": 399,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Tyr425Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}