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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: 17-63918015-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63918015&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63918015,
"ref": "A",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_000515.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.291+2T>C",
"hgvs_p": null,
"transcript": "NM_000515.5",
"protein_id": "NP_000506.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323322.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.291+2T>C",
"hgvs_p": null,
"transcript": "ENST00000323322.10",
"protein_id": "ENSP00000312673.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000515.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323322.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285947",
"gene_hgnc_id": null,
"hgvs_c": "c.567+2T>C",
"hgvs_p": null,
"transcript": "ENST00000647774.1",
"protein_id": "ENSP00000497443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.246+2T>C",
"hgvs_p": null,
"transcript": "ENST00000458650.6",
"protein_id": "ENSP00000408486.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458650.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.246+2T>C",
"hgvs_p": null,
"transcript": "NM_022559.4",
"protein_id": "NP_072053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022559.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.172-91T>C",
"hgvs_p": null,
"transcript": "NM_022560.4",
"protein_id": "NP_072054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022560.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.172-91T>C",
"hgvs_p": null,
"transcript": "ENST00000351388.8",
"protein_id": "ENSP00000343791.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351388.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.171+331T>C",
"hgvs_p": null,
"transcript": "ENST00000342364.8",
"protein_id": "ENSP00000339278.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342364.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.11-509T>C",
"hgvs_p": null,
"transcript": "ENST00000617086.1",
"protein_id": "ENSP00000481276.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "n.652+2T>C",
"hgvs_p": null,
"transcript": "ENST00000579711.1",
"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": "ENST00000579711.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC112268204",
"gene_hgnc_id": null,
"hgvs_c": "n.*89A>G",
"hgvs_p": null,
"transcript": "XR_002958148.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_002958148.2"
}
],
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"dbsnp": "rs863223310",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.7179999947547913,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.85,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999955847048989,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000515.5",
"gene_symbol": "GH1",
"hgnc_id": 4261,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.291+2T>C",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000647774.1",
"gene_symbol": "ENSG00000285947",
"hgnc_id": null,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.567+2T>C",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_002958148.2",
"gene_symbol": "LOC112268204",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*89A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant isolated somatotropin deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Autosomal dominant isolated somatotropin deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}