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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: 10-72233067-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72233067&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72233067,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000299381.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "NM_173473.4",
"protein_id": "NP_775744.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": "ENST00000299381.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "ENST00000299381.5",
"protein_id": "ENSP00000299381.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": "NM_173473.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "n.1066G>A",
"hgvs_p": null,
"transcript": "ENST00000470481.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "NM_001242546.2",
"protein_id": "NP_001229475.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "NM_001242547.2",
"protein_id": "NP_001229476.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "NM_001366791.1",
"protein_id": "NP_001353720.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "ENST00000621663.4",
"protein_id": "ENSP00000477760.1",
"transcript_support_level": 3,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70Gln",
"transcript": "NM_001242548.2",
"protein_id": "NP_001229477.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 85,
"cds_start": 209,
"cds_end": null,
"cds_length": 258,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70Gln",
"transcript": "ENST00000615507.4",
"protein_id": "ENSP00000478792.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 85,
"cds_start": 209,
"cds_end": null,
"cds_length": 258,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "XM_047424580.1",
"protein_id": "XP_047280536.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "XM_047424582.1",
"protein_id": "XP_047280538.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 110,
"cds_start": 284,
"cds_end": null,
"cds_length": 333,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "ENST00000478193.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "n.203G>A",
"hgvs_p": null,
"transcript": "NR_038391.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"hgvs_c": "n.269G>A",
"hgvs_p": null,
"transcript": "NR_038392.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANAPC16",
"gene_hgnc_id": 26976,
"dbsnp": "rs748812488",
"frequency_reference_population": 0.00010966379,
"hom_count_reference_population": 0,
"allele_count_reference_population": 177,
"gnomad_exomes_af": 0.000110816,
"gnomad_genomes_af": 0.0000985895,
"gnomad_exomes_ac": 162,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.257688045501709,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2747,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.381,
"phylop100way_prediction": "Uncertain_significance",
"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": -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": "ENST00000299381.5",
"gene_symbol": "ANAPC16",
"hgnc_id": 26976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln"
}
],
"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
}