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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: 11-46320708-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46320708&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46320708,
"ref": "A",
"alt": "AG",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000621158.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1525dupG",
"hgvs_p": "p.Asp509fs",
"transcript": "NM_052854.4",
"protein_id": "NP_443086.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 519,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": "ENST00000621158.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1524-2_1524-1insG",
"hgvs_p": null,
"transcript": "ENST00000621158.5",
"protein_id": "ENSP00000481956.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": -4,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": "NM_052854.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "n.1118-2_1118-1insG",
"hgvs_p": null,
"transcript": "ENST00000616094.1",
"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": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1519dupG",
"hgvs_p": "p.Asp507fs",
"transcript": "NM_001425267.1",
"protein_id": "NP_001412196.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 517,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1387dupG",
"hgvs_p": "p.Asp463fs",
"transcript": "NM_001425268.1",
"protein_id": "NP_001412197.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 473,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1261dupG",
"hgvs_p": "p.Asp421fs",
"transcript": "NM_001425269.1",
"protein_id": "NP_001412198.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 431,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "n.3090dupG",
"hgvs_p": null,
"transcript": "NR_189153.1",
"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": 3788,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"hgvs_c": "c.1524-36dupG",
"hgvs_p": null,
"transcript": "NM_001425266.1",
"protein_id": "NP_001412195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CREB3L1",
"gene_hgnc_id": 18856,
"dbsnp": "rs79068197",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.249,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1,PM2,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 8,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2",
"BP6_Very_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000621158.5",
"gene_symbol": "CREB3L1",
"hgnc_id": 18856,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1524-2_1524-1insG",
"hgvs_p": null
}
],
"clinvar_disease": "Osteogenesis imperfecta type 16,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Osteogenesis imperfecta type 16|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}