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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: X-70448613-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70448613&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70448613,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000374360.8",
"consequences": [
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.358-300A>G",
"hgvs_p": null,
"transcript": "NM_021120.4",
"protein_id": "NP_066943.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": "ENST00000374360.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.358-300A>G",
"hgvs_p": null,
"transcript": "ENST00000374360.8",
"protein_id": "ENSP00000363480.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": "NM_021120.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Thr131Ala",
"transcript": "ENST00000194900.8",
"protein_id": "ENSP00000194900.4",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 849,
"cds_start": 391,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "n.424-300A>G",
"hgvs_p": null,
"transcript": "ENST00000463252.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 4626,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.358-300A>G",
"hgvs_p": null,
"transcript": "XM_006724625.3",
"protein_id": "XP_006724688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": -4,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6138,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.358-300A>G",
"hgvs_p": null,
"transcript": "XM_011530883.2",
"protein_id": "XP_011529185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6096,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"hgvs_c": "c.358-300A>G",
"hgvs_p": null,
"transcript": "XM_006724626.3",
"protein_id": "XP_006724689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG3",
"gene_hgnc_id": 2902,
"dbsnp": "rs2281868",
"frequency_reference_population": 0.4738316,
"hom_count_reference_population": 244582,
"allele_count_reference_population": 498640,
"gnomad_exomes_af": 0.473832,
"gnomad_genomes_af": 0.572576,
"gnomad_exomes_ac": 498640,
"gnomad_genomes_ac": 62298,
"gnomad_exomes_homalt": 81333,
"gnomad_genomes_homalt": 13737,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000041137405787594616,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0683,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.982,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374360.8",
"gene_symbol": "DLG3",
"hgnc_id": 2902,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.358-300A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}