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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: 4-75012761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75012761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75012761,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000307428.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu",
"transcript": "NM_015393.4",
"protein_id": "NP_056208.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 310,
"cds_start": 380,
"cds_end": null,
"cds_length": 933,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "ENST00000307428.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu",
"transcript": "ENST00000307428.7",
"protein_id": "ENSP00000370224.3",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 310,
"cds_start": 380,
"cds_end": null,
"cds_length": 933,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "NM_015393.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "XM_011531833.1",
"protein_id": "XP_011530135.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 345,
"cds_start": 485,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.44-21122C>T",
"hgvs_p": null,
"transcript": "ENST00000513238.5",
"protein_id": "ENSP00000424276.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248165",
"gene_hgnc_id": null,
"hgvs_c": "n.52-13590G>A",
"hgvs_p": null,
"transcript": "ENST00000513770.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"dbsnp": "rs3822109",
"frequency_reference_population": 0.42365465,
"hom_count_reference_population": 148830,
"allele_count_reference_population": 683571,
"gnomad_exomes_af": 0.427724,
"gnomad_genomes_af": 0.384503,
"gnomad_exomes_ac": 625155,
"gnomad_genomes_ac": 58416,
"gnomad_exomes_homalt": 137140,
"gnomad_genomes_homalt": 11690,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00011003335384884849,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0756,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.397,
"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": "ENST00000307428.7",
"gene_symbol": "PARM1",
"hgnc_id": 24536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000513770.1",
"gene_symbol": "ENSG00000248165",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.52-13590G>A",
"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
}