← 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: 6-160047277-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160047277&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IGF2R",
"hgnc_id": 5467,
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Ala724Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000876.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 3012,
"alphamissense_prediction": null,
"alphamissense_score": 0.0903,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004484355449676514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "A",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14061,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 7476,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000876.4",
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Ala724Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356956.6",
"protein_coding": true,
"protein_id": "NP_000867.3",
"strand": true,
"transcript": "NM_000876.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "A",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14061,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 7476,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000356956.6",
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Ala724Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000876.4",
"protein_coding": true,
"protein_id": "ENSP00000349437.1",
"strand": true,
"transcript": "ENST00000356956.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 14227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676781.1",
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"hgvs_c": "n.*278G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504419.1",
"strand": true,
"transcript": "ENST00000676781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 14231,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677704.1",
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"hgvs_c": "n.2170G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503314.1",
"strand": true,
"transcript": "ENST00000677704.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 14227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 49,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676781.1",
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"hgvs_c": "n.*278G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504419.1",
"strand": true,
"transcript": "ENST00000676781.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs6413491",
"effect": "missense_variant",
"frequency_reference_population": 0.0018679464,
"gene_hgnc_id": 5467,
"gene_symbol": "IGF2R",
"gnomad_exomes_ac": 1588,
"gnomad_exomes_af": 0.00108746,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_ac": 1424,
"gnomad_genomes_af": 0.00935746,
"gnomad_genomes_homalt": 30,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 52,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.678,
"pos": 160047277,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.029,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000876.4"
}
]
}