← 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: 9-35611883-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35611883&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35611883,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001782.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Gly291Arg",
"transcript": "NM_001782.3",
"protein_id": "NP_001773.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 359,
"cds_start": 871,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259633.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001782.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Gly291Arg",
"transcript": "ENST00000259633.9",
"protein_id": "ENSP00000259633.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 359,
"cds_start": 871,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001782.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259633.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "n.1252G>C",
"hgvs_p": null,
"transcript": "ENST00000490239.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490239.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Gly291Arg",
"transcript": "XM_006716893.3",
"protein_id": "XP_006716956.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 366,
"cds_start": 871,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716893.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "XM_047424154.1",
"protein_id": "XP_047280110.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 362,
"cds_start": 859,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424154.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "XM_047424155.1",
"protein_id": "XP_047280111.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 362,
"cds_start": 859,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424155.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "XM_047424156.1",
"protein_id": "XP_047280112.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 355,
"cds_start": 859,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424156.1"
}
],
"gene_symbol": "CD72",
"gene_hgnc_id": 1696,
"dbsnp": "rs750352931",
"frequency_reference_population": 0.000024219842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000246896,
"gnomad_genomes_af": 0.0000197176,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02170613408088684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1541,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.176,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001782.3",
"gene_symbol": "CD72",
"hgnc_id": 1696,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Gly291Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}