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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: 3-122284195-CC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122284195&ref=CC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122284195,
"ref": "CC",
"alt": "T",
"effect": "frameshift_variant,synonymous_variant",
"transcript": "ENST00000639785.2",
"consequences": [
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "NM_000388.4",
"protein_id": "NP_000379.3",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 10062,
"mane_select": "ENST00000639785.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "ENST00000639785.2",
"protein_id": "ENSP00000491584.2",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 10062,
"mane_select": "NM_000388.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2271_2272delCCinsT",
"hgvs_p": "p.Pro758fs",
"transcript": "ENST00000498619.4",
"protein_id": "ENSP00000420194.1",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2271_2272delCCinsT",
"hgvs_p": "p.Pro758fs",
"transcript": "NM_001178065.2",
"protein_id": "NP_001171536.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 10150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "ENST00000638421.1",
"protein_id": "ENSP00000492190.1",
"transcript_support_level": 5,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2010_2011delCCinsT",
"hgvs_p": "p.Pro671fs",
"transcript": "ENST00000490131.7",
"protein_id": "ENSP00000418685.2",
"transcript_support_level": 5,
"aa_start": 670,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2010,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "XM_006713789.4",
"protein_id": "XP_006713852.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 10120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "XM_017007324.2",
"protein_id": "XP_016862813.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 11994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs",
"transcript": "XM_017007325.2",
"protein_id": "XP_016862814.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 10019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"hgvs_c": "c.1758_1759delCCinsT",
"hgvs_p": "p.Pro587fs",
"transcript": "XM_047449065.1",
"protein_id": "XP_047305021.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 917,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 9813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASR",
"gene_hgnc_id": 1514,
"dbsnp": "rs869320729",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000639785.2",
"gene_symbol": "CASR",
"hgnc_id": 1514,
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2241_2242delCCinsT",
"hgvs_p": "p.Pro748fs"
}
],
"clinvar_disease": "Neonatal severe primary hyperparathyroidism",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neonatal severe primary hyperparathyroidism",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}