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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: 14-102930171-CCCTCGGCG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102930171&ref=CCCTCGGCG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102930171,
"ref": "CCCTCGGCG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_030943.4",
"consequences": [
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.1014_1021delCCTCGGCG",
"hgvs_p": "p.Leu339fs",
"transcript": "NM_030943.4",
"protein_id": "NP_112205.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 453,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299155.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030943.4"
},
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.1014_1021delCCTCGGCG",
"hgvs_p": "p.Leu339fs",
"transcript": "ENST00000299155.10",
"protein_id": "ENSP00000299155.6",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 453,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030943.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299155.10"
},
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.957_964delCCTCGGCG",
"hgvs_p": "p.Leu320fs",
"transcript": "ENST00000872999.1",
"protein_id": "ENSP00000543058.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 434,
"cds_start": 957,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872999.1"
},
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.852_859delCCTCGGCG",
"hgvs_p": "p.Leu285fs",
"transcript": "NM_001425246.1",
"protein_id": "NP_001412175.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 399,
"cds_start": 852,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425246.1"
},
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.132_139delCCTCGGCG",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000559789.1",
"protein_id": "ENSP00000452831.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 129,
"cds_start": 132,
"cds_end": null,
"cds_length": 391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559789.1"
},
{
"aa_ref": "ALGV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.852_859delCCTCGGCG",
"hgvs_p": "p.Leu285fs",
"transcript": "XM_011537203.4",
"protein_id": "XP_011535505.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 399,
"cds_start": 852,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537203.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.1760_1767delCCTCGGCG",
"hgvs_p": null,
"transcript": "ENST00000541086.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541086.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.977_984delCCTCGGCG",
"hgvs_p": null,
"transcript": "ENST00000558590.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.66_73delCCTCGGCG",
"hgvs_p": null,
"transcript": "ENST00000559507.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559507.1"
}
],
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"dbsnp": "rs386834163",
"frequency_reference_population": 7.487765e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.48776e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 3.938,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_030943.4",
"gene_symbol": "AMN",
"hgnc_id": 14604,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1014_1021delCCTCGGCG",
"hgvs_p": "p.Leu339fs"
}
],
"clinvar_disease": "Imerslund-Grasbeck syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Imerslund-Grasbeck syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}