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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: 4-47665221-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47665221&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47665221,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000273857.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Pro467Leu",
"transcript": "NM_006587.4",
"protein_id": "NP_006578.2",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1400,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": "ENST00000273857.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Pro467Leu",
"transcript": "ENST00000273857.9",
"protein_id": "ENSP00000273857.4",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1400,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": "NM_006587.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "ENST00000505909.5",
"protein_id": "ENSP00000425401.1",
"transcript_support_level": 5,
"aa_start": 430,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1289,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"transcript": "ENST00000502252.5",
"protein_id": "ENSP00000424212.1",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 975,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Pro363Leu",
"transcript": "NM_001278585.2",
"protein_id": "NP_001265514.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 938,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Pro363Leu",
"transcript": "ENST00000610355.4",
"protein_id": "ENSP00000484087.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 938,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"transcript": "ENST00000508498.5",
"protein_id": "ENSP00000425597.1",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 903,
"cds_start": 983,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "NM_001278586.2",
"protein_id": "NP_001265515.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 734,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "ENST00000504584.1",
"protein_id": "ENSP00000423216.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 734,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "n.1407C>T",
"hgvs_p": null,
"transcript": "ENST00000503821.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"dbsnp": "rs193921036",
"frequency_reference_population": 0.0000034208056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342081,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8924669623374939,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.788,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.964,
"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": "ENST00000273857.9",
"gene_symbol": "CORIN",
"hgnc_id": 19012,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Pro467Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}