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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: 8-75020064-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=75020064&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 75020064,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262207.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ala410Val",
"transcript": "NM_031461.6",
"protein_id": "NP_113649.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 500,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": "ENST00000262207.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ala410Val",
"transcript": "ENST00000262207.9",
"protein_id": "ENSP00000262207.4",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 500,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": "NM_031461.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "NM_001286777.2",
"protein_id": "NP_001273706.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 314,
"cds_start": 671,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "ENST00000517786.1",
"protein_id": "ENSP00000429746.1",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 314,
"cds_start": 671,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.665C>T",
"hgvs_p": "p.Ala222Val",
"transcript": "NM_001286778.2",
"protein_id": "NP_001273707.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 312,
"cds_start": 665,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"hgvs_c": "c.665C>T",
"hgvs_p": "p.Ala222Val",
"transcript": "ENST00000523524.5",
"protein_id": "ENSP00000430105.1",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 312,
"cds_start": 665,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRISPLD1",
"gene_hgnc_id": 18206,
"dbsnp": "rs747202297",
"frequency_reference_population": 0.00001115319,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116303,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16150006651878357,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.821,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262207.9",
"gene_symbol": "CRISPLD1",
"hgnc_id": 18206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ala410Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}