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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: 20-19280979-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19280979&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19280979,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020689.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A3",
"gene_hgnc_id": 10977,
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Val55Ile",
"transcript": "NM_020689.4",
"protein_id": "NP_065740.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328041.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020689.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A3",
"gene_hgnc_id": 10977,
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Val55Ile",
"transcript": "ENST00000328041.11",
"protein_id": "ENSP00000333519.5",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020689.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328041.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A3",
"gene_hgnc_id": 10977,
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Val55Ile",
"transcript": "ENST00000962751.1",
"protein_id": "ENSP00000632810.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 597,
"cds_start": 163,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC24A3-AS1",
"gene_hgnc_id": 40540,
"hgvs_c": "n.529+2160C>T",
"hgvs_p": null,
"transcript": "ENST00000319682.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000319682.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC24A3-AS1",
"gene_hgnc_id": 40540,
"hgvs_c": "n.529+2160C>T",
"hgvs_p": null,
"transcript": "NR_024564.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024564.1"
}
],
"gene_symbol": "SLC24A3",
"gene_hgnc_id": 10977,
"dbsnp": "rs1569767",
"frequency_reference_population": 0.42809308,
"hom_count_reference_population": 150187,
"allele_count_reference_population": 690515,
"gnomad_exomes_af": 0.430146,
"gnomad_genomes_af": 0.408343,
"gnomad_exomes_ac": 628491,
"gnomad_genomes_ac": 62024,
"gnomad_exomes_homalt": 137079,
"gnomad_genomes_homalt": 13108,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00010514075256651267,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.186,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020689.4",
"gene_symbol": "SLC24A3",
"hgnc_id": 10977,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Val55Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000319682.2",
"gene_symbol": "SLC24A3-AS1",
"hgnc_id": 40540,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.529+2160C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}