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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: 1-15649788-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15649788&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15649788,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032341.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Met320Val",
"transcript": "NM_032341.5",
"protein_id": "NP_115717.3",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 399,
"cds_start": 958,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 10667,
"mane_select": "ENST00000480945.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Met320Val",
"transcript": "ENST00000480945.6",
"protein_id": "ENSP00000417748.1",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 399,
"cds_start": 958,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 10667,
"mane_select": "NM_032341.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Met320Val",
"transcript": "ENST00000711098.1",
"protein_id": "ENSP00000518576.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 1022,
"cds_start": 958,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 10604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Met320Val",
"transcript": "ENST00000711099.1",
"protein_id": "ENSP00000518577.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 418,
"cds_start": 958,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 10665,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "n.*267A>G",
"hgvs_p": null,
"transcript": "ENST00000320153.10",
"protein_id": "ENSP00000449475.1",
"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": 2076,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "n.*152A>G",
"hgvs_p": null,
"transcript": "ENST00000483899.1",
"protein_id": "ENSP00000448878.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "n.*267A>G",
"hgvs_p": null,
"transcript": "ENST00000320153.10",
"protein_id": "ENSP00000449475.1",
"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": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"hgvs_c": "n.*152A>G",
"hgvs_p": null,
"transcript": "ENST00000483899.1",
"protein_id": "ENSP00000448878.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDI2",
"gene_hgnc_id": 24578,
"dbsnp": "rs1056577268",
"frequency_reference_population": 0.0000043385776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342183,
"gnomad_genomes_af": 0.0000131384,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5660310983657837,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.349,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5233,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032341.5",
"gene_symbol": "DDI2",
"hgnc_id": 24578,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Met320Val"
}
],
"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
}