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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: 11-18269327-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18269327&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18269327,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000356524.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "NM_199161.5",
"protein_id": "NP_954630.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 518,
"mane_select": "ENST00000356524.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000356524.9",
"protein_id": "ENSP00000348918.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 518,
"mane_select": "NM_199161.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000532858.5",
"protein_id": "ENSP00000436866.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "NM_000331.6",
"protein_id": "NP_000322.3",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "NM_001178006.3",
"protein_id": "NP_001171477.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000405158.2",
"protein_id": "ENSP00000384906.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 122,
"cds_start": 224,
"cds_end": null,
"cds_length": 369,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000649195.1",
"protein_id": "ENSP00000497498.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 77,
"cds_start": 224,
"cds_end": null,
"cds_length": 234,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000689650.1",
"protein_id": "ENSP00000509190.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 77,
"cds_start": 224,
"cds_end": null,
"cds_length": 234,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"dbsnp": "rs1136747",
"frequency_reference_population": 0.6013184,
"hom_count_reference_population": 23233,
"allele_count_reference_population": 88846,
"gnomad_exomes_af": 0.600929,
"gnomad_genomes_af": 0.601318,
"gnomad_exomes_ac": 781752,
"gnomad_genomes_ac": 88846,
"gnomad_exomes_homalt": 180767,
"gnomad_genomes_homalt": 23233,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005011230707168579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.683,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000892683004865045,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000356524.9",
"gene_symbol": "SAA1",
"hgnc_id": 10513,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}