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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: 1-94046943-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94046943&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 94046943,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000350.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA4",
"gene_hgnc_id": 34,
"hgvs_c": "c.2894A>G",
"hgvs_p": "p.Asn965Ser",
"transcript": "NM_000350.3",
"protein_id": "NP_000341.2",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 2273,
"cds_start": 2894,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": "ENST00000370225.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000350.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA4",
"gene_hgnc_id": 34,
"hgvs_c": "c.2894A>G",
"hgvs_p": "p.Asn965Ser",
"transcript": "ENST00000370225.4",
"protein_id": "ENSP00000359245.3",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 2273,
"cds_start": 2894,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": "NM_000350.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370225.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA4",
"gene_hgnc_id": 34,
"hgvs_c": "c.2672A>G",
"hgvs_p": "p.Asn891Ser",
"transcript": "NM_001425324.1",
"protein_id": "NP_001412253.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 2199,
"cds_start": 2672,
"cds_end": null,
"cds_length": 6600,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425324.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA4",
"gene_hgnc_id": 34,
"hgvs_c": "c.2672A>G",
"hgvs_p": "p.Asn891Ser",
"transcript": "ENST00000649773.1",
"protein_id": "ENSP00000496882.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 979,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649773.1"
}
],
"gene_symbol": "ABCA4",
"gene_hgnc_id": 34,
"dbsnp": "rs201471607",
"frequency_reference_population": 0.00007496493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 121,
"gnomad_exomes_af": 0.0000745612,
"gnomad_genomes_af": 0.0000788426,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6267576217651367,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.779,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.206,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000350.3",
"gene_symbol": "ABCA4",
"hgnc_id": 34,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2894A>G",
"hgvs_p": "p.Asn965Ser"
}
],
"clinvar_disease": "Age related macular degeneration 2,Cone-rod dystrophy,Cone-rod dystrophy 3,Macular dystrophy,Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 19,Severe early-childhood-onset retinal dystrophy,Stargardt disease,Stargardt disease 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:11",
"phenotype_combined": "Severe early-childhood-onset retinal dystrophy|not provided|Retinitis pigmentosa|Cone-rod dystrophy|Macular dystrophy|Stargardt disease|Retinal dystrophy|Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Retinitis pigmentosa 19|Stargardt disease 3|Retinitis pigmentosa 19",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}