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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: 11-123373234-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123373234&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123373234,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001367421.2",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.-85+14435A>G",
"hgvs_p": null,
"transcript": "NM_001367421.2",
"protein_id": "NP_001354350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8136,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.26+14435A>G",
"hgvs_p": null,
"transcript": "NM_001367420.2",
"protein_id": "NP_001354349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7894,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.26+14435A>G",
"hgvs_p": null,
"transcript": "NM_001367419.2",
"protein_id": "NP_001354348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7822,
"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": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.26+14435A>G",
"hgvs_p": null,
"transcript": "NM_001367418.2",
"protein_id": "NP_001354347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7810,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.-176+14435A>G",
"hgvs_p": null,
"transcript": "ENST00000638157.1",
"protein_id": "ENSP00000489896.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3849,
"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": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.-452+14435A>G",
"hgvs_p": null,
"transcript": "XM_047427319.1",
"protein_id": "XP_047283275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4307,
"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": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.-85+14435A>G",
"hgvs_p": null,
"transcript": "XM_047427324.1",
"protein_id": "XP_047283280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"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": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.26+14435A>G",
"hgvs_p": null,
"transcript": "XM_017018039.2",
"protein_id": "XP_016873528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3482,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.26+14435A>G",
"hgvs_p": null,
"transcript": "XM_024448622.2",
"protein_id": "XP_024304390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"dbsnp": "rs11822822",
"frequency_reference_population": 0.3892766,
"hom_count_reference_population": 17753,
"allele_count_reference_population": 59237,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.389277,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 59237,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 17753,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.04,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001367421.2",
"gene_symbol": "GRAMD1B",
"hgnc_id": 29214,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-85+14435A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}