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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: 1-233328752-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=233328752&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 233328752,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032435.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "NM_032435.3",
"protein_id": "NP_115811.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1036,
"cds_start": 724,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "ENST00000366624.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032435.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000366624.8",
"protein_id": "ENSP00000355583.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 1036,
"cds_start": 724,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "NM_032435.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366624.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000366623.7",
"protein_id": "ENSP00000355582.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 570,
"cds_start": 724,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366623.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000915953.1",
"protein_id": "ENSP00000586012.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1038,
"cds_start": 724,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915953.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000915950.1",
"protein_id": "ENSP00000586009.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 995,
"cds_start": 724,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915950.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000915951.1",
"protein_id": "ENSP00000586010.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 926,
"cds_start": 724,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915951.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000915949.1",
"protein_id": "ENSP00000586008.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 746,
"cds_start": 724,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915949.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu",
"transcript": "ENST00000915952.1",
"protein_id": "ENSP00000586011.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 403,
"cds_start": 724,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915952.1"
}
],
"gene_symbol": "MAP3K21",
"gene_hgnc_id": 29798,
"dbsnp": "rs778992107",
"frequency_reference_population": 0.0000029153116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000291531,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3449118137359619,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.544,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3067,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.643,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032435.3",
"gene_symbol": "MAP3K21",
"hgnc_id": 29798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Val242Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}