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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: 11-124749753-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124749753&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124749753,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014312.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "NM_014312.5",
"protein_id": "NP_055127.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 327,
"cds_start": 541,
"cds_end": null,
"cds_length": 984,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": "ENST00000326621.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "ENST00000326621.10",
"protein_id": "ENSP00000318684.5",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 327,
"cds_start": 541,
"cds_end": null,
"cds_length": 984,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": "NM_014312.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "NM_001329920.2",
"protein_id": "NP_001316849.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 284,
"cds_start": 541,
"cds_end": null,
"cds_length": 855,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "ENST00000403470.1",
"protein_id": "ENSP00000385013.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 284,
"cds_start": 541,
"cds_end": null,
"cds_length": 855,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "XM_047426684.1",
"protein_id": "XP_047282640.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 213,
"cds_start": 541,
"cds_end": null,
"cds_length": 642,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"hgvs_c": "c.175C>A",
"hgvs_p": "p.Arg59Ser",
"transcript": "XM_047426685.1",
"protein_id": "XP_047282641.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 205,
"cds_start": 175,
"cds_end": null,
"cds_length": 618,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VSIG2",
"gene_hgnc_id": 17149,
"dbsnp": "rs754244446",
"frequency_reference_population": 0.0000054732664,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547327,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7064942121505737,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8999999761581421,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.3614,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.969,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.9,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014312.5",
"gene_symbol": "VSIG2",
"hgnc_id": 17149,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}