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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: 11-67490852-CCAGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67490852&ref=CCAGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67490852,
"ref": "CCAGG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000279146.8",
"consequences": [
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.854_857delAGGC",
"hgvs_p": "p.Gln285fs",
"transcript": "NM_003977.4",
"protein_id": "NP_003968.3",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 330,
"cds_start": 854,
"cds_end": null,
"cds_length": 993,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "ENST00000279146.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.854_857delAGGC",
"hgvs_p": "p.Gln285fs",
"transcript": "ENST00000279146.8",
"protein_id": "ENSP00000279146.3",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 330,
"cds_start": 854,
"cds_end": null,
"cds_length": 993,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "NM_003977.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.854_857delAGGC",
"hgvs_p": "p.Gln285fs",
"transcript": "ENST00000682699.1",
"protein_id": "ENSP00000507935.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 314,
"cds_start": 854,
"cds_end": null,
"cds_length": 946,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.846_849delAGGC",
"hgvs_p": "p.Gly283fs",
"transcript": "NM_001302960.2",
"protein_id": "NP_001289889.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 283,
"cds_start": 846,
"cds_end": null,
"cds_length": 852,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.846_849delAGGC",
"hgvs_p": "p.Gly283fs",
"transcript": "ENST00000683237.1",
"protein_id": "ENSP00000507343.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 283,
"cds_start": 846,
"cds_end": null,
"cds_length": 852,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.843_846delAGGC",
"hgvs_p": "p.Gly282fs",
"transcript": "ENST00000684006.1",
"protein_id": "ENSP00000507269.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 843,
"cds_end": null,
"cds_length": 849,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.677_680delAGGC",
"hgvs_p": "p.Gln226fs",
"transcript": "NM_001302959.2",
"protein_id": "NP_001289888.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 271,
"cds_start": 677,
"cds_end": null,
"cds_length": 816,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.677_680delAGGC",
"hgvs_p": "p.Gln226fs",
"transcript": "ENST00000683856.1",
"protein_id": "ENSP00000507979.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 271,
"cds_start": 677,
"cds_end": null,
"cds_length": 816,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.674_677delAGGC",
"hgvs_p": "p.Gln225fs",
"transcript": "ENST00000684657.1",
"protein_id": "ENSP00000507961.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 270,
"cds_start": 674,
"cds_end": null,
"cds_length": 813,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.665_668delAGGC",
"hgvs_p": "p.Gln222fs",
"transcript": "ENST00000528641.7",
"protein_id": "ENSP00000434982.3",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 267,
"cds_start": 665,
"cds_end": null,
"cds_length": 804,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.485_488delAGGC",
"hgvs_p": "p.Gln162fs",
"transcript": "ENST00000682659.1",
"protein_id": "ENSP00000507351.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 207,
"cds_start": 485,
"cds_end": null,
"cds_length": 624,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 721,
"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": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "n.1696_1699delAGGC",
"hgvs_p": null,
"transcript": "ENST00000529797.2",
"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": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.*269_*272delAGGC",
"hgvs_p": null,
"transcript": "ENST00000525341.2",
"protein_id": "ENSP00000476993.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1304,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.469-143_469-140delAGGC",
"hgvs_p": null,
"transcript": "ENST00000682324.1",
"protein_id": "ENSP00000508017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"dbsnp": "rs267606582",
"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": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.563,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000279146.8",
"gene_symbol": "AIP",
"hgnc_id": 358,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.854_857delAGGC",
"hgvs_p": "p.Gln285fs"
}
],
"clinvar_disease": "Somatotroph adenoma",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Somatotroph adenoma",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}