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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: 11-43901601-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43901601&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43901601,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_139178.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "NM_139178.4",
"protein_id": "NP_631917.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 286,
"cds_start": 545,
"cds_end": null,
"cds_length": 861,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": "ENST00000302708.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139178.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "ENST00000302708.9",
"protein_id": "ENSP00000302232.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 286,
"cds_start": 545,
"cds_end": null,
"cds_length": 861,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": "NM_139178.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302708.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.*100G>C",
"hgvs_p": null,
"transcript": "ENST00000532962.5",
"protein_id": "ENSP00000434832.1",
"transcript_support_level": 1,
"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": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.*100G>C",
"hgvs_p": null,
"transcript": "ENST00000532962.5",
"protein_id": "ENSP00000434832.1",
"transcript_support_level": 1,
"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": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532962.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "ENST00000856730.1",
"protein_id": "ENSP00000526789.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 286,
"cds_start": 545,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856730.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000856731.1",
"protein_id": "ENSP00000526790.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 285,
"cds_start": 542,
"cds_end": null,
"cds_length": 858,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856731.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000529366.5",
"protein_id": "ENSP00000435848.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 222,
"cds_start": 542,
"cds_end": null,
"cds_length": 671,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529366.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.152G>C",
"hgvs_p": "p.Arg51Pro",
"transcript": "ENST00000532129.1",
"protein_id": "ENSP00000433614.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 155,
"cds_start": 152,
"cds_end": null,
"cds_length": 468,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532129.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.459+9472G>C",
"hgvs_p": null,
"transcript": "ENST00000856729.1",
"protein_id": "ENSP00000526788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856729.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.456+9472G>C",
"hgvs_p": null,
"transcript": "ENST00000943080.1",
"protein_id": "ENSP00000613139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943080.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "c.370+11773G>C",
"hgvs_p": null,
"transcript": "ENST00000916780.1",
"protein_id": "ENSP00000586839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.469G>C",
"hgvs_p": null,
"transcript": "ENST00000530754.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530754.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.*100G>C",
"hgvs_p": null,
"transcript": "ENST00000530803.5",
"protein_id": "ENSP00000436788.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530803.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.*100G>C",
"hgvs_p": null,
"transcript": "ENST00000530803.5",
"protein_id": "ENSP00000436788.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530803.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.293+11773G>C",
"hgvs_p": null,
"transcript": "ENST00000532410.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000532410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"hgvs_c": "n.*220G>C",
"hgvs_p": null,
"transcript": "ENST00000534171.5",
"protein_id": "ENSP00000432259.1",
"transcript_support_level": 5,
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534171.5"
}
],
"gene_symbol": "ALKBH3",
"gene_hgnc_id": 30141,
"dbsnp": "rs372711510",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-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": 0.8412826061248779,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.69,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9615,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.316,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139178.4",
"gene_symbol": "ALKBH3",
"hgnc_id": 30141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}