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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: 7-137908331-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=137908331&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 137908331,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_194071.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Pro230Arg",
"transcript": "NM_194071.4",
"protein_id": "NP_919047.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 520,
"cds_start": 689,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 7441,
"mane_select": "ENST00000330387.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194071.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Pro230Arg",
"transcript": "ENST00000330387.11",
"protein_id": "ENSP00000329140.6",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 520,
"cds_start": 689,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 7441,
"mane_select": "NM_194071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330387.11"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000898368.1",
"protein_id": "ENSP00000568427.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 518,
"cds_start": 683,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 7145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898368.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Pro230Arg",
"transcript": "ENST00000456390.5",
"protein_id": "ENSP00000403550.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 460,
"cds_start": 689,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456390.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"hgvs_c": "c.500C>G",
"hgvs_p": "p.Pro167Arg",
"transcript": "NM_001318246.2",
"protein_id": "NP_001305175.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 457,
"cds_start": 500,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 7043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318246.2"
}
],
"gene_symbol": "CREB3L2",
"gene_hgnc_id": 23720,
"dbsnp": "rs575391409",
"frequency_reference_population": 9.0466625e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.04666e-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": 0.07250818610191345,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.224,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.867,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194071.4",
"gene_symbol": "CREB3L2",
"hgnc_id": 23720,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Pro230Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}