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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: 18-24427934-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24427934&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24427934,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018439.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "NM_018439.4",
"protein_id": "NP_060909.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 320,
"cds_start": 52,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284202.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018439.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000284202.9",
"protein_id": "ENSP00000284202.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 320,
"cds_start": 52,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284202.9"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "n.1288G>A",
"hgvs_p": null,
"transcript": "ENST00000580706.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580706.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000648078.1",
"protein_id": "ENSP00000497783.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 52,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648078.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000896353.1",
"protein_id": "ENSP00000566412.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 322,
"cds_start": 52,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896353.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000896355.1",
"protein_id": "ENSP00000566414.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 319,
"cds_start": 52,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896355.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000896352.1",
"protein_id": "ENSP00000566411.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 303,
"cds_start": 52,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896352.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000896354.1",
"protein_id": "ENSP00000566413.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 299,
"cds_start": 52,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896354.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000578221.1",
"protein_id": "ENSP00000464363.1",
"transcript_support_level": 4,
"aa_start": 18,
"aa_end": null,
"aa_length": 184,
"cds_start": 52,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.-3G>A",
"hgvs_p": null,
"transcript": "ENST00000585067.5",
"protein_id": "ENSP00000462769.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585067.5"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.37-935G>A",
"hgvs_p": null,
"transcript": "ENST00000936943.1",
"protein_id": "ENSP00000607002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936943.1"
}
],
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"dbsnp": "rs771216933",
"frequency_reference_population": 6.933697e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9337e-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": 0.80625319480896,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.386,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9432,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.45,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018439.4",
"gene_symbol": "IMPACT",
"hgnc_id": 20387,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}