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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: 19-40223202-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40223202&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40223202,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001411133.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Ala258Ala",
"transcript": "NM_024877.4",
"protein_id": "NP_079153.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 307,
"cds_start": 774,
"cds_end": null,
"cds_length": 924,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": "ENST00000430325.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024877.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Ala258Ala",
"transcript": "ENST00000430325.7",
"protein_id": "ENSP00000396755.2",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 307,
"cds_start": 774,
"cds_end": null,
"cds_length": 924,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": "NM_024877.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430325.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Ala258Ala",
"transcript": "NM_001411133.1",
"protein_id": "NP_001398062.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 329,
"cds_start": 774,
"cds_end": null,
"cds_length": 990,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411133.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Ala258Ala",
"transcript": "ENST00000599263.6",
"protein_id": "ENSP00000470643.2",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 329,
"cds_start": 774,
"cds_end": null,
"cds_length": 990,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599263.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Ala228Ala",
"transcript": "ENST00000921917.1",
"protein_id": "ENSP00000591976.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 277,
"cds_start": 684,
"cds_end": null,
"cds_length": 834,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921917.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.528G>A",
"hgvs_p": "p.Ala176Ala",
"transcript": "ENST00000921918.1",
"protein_id": "ENSP00000591977.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 225,
"cds_start": 528,
"cds_end": null,
"cds_length": 678,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921918.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "c.456G>A",
"hgvs_p": "p.Ala152Ala",
"transcript": "ENST00000513948.1",
"protein_id": "ENSP00000425529.1",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 201,
"cds_start": 456,
"cds_end": null,
"cds_length": 606,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "n.*312G>A",
"hgvs_p": null,
"transcript": "ENST00000221818.5",
"protein_id": "ENSP00000221818.1",
"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": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000221818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "n.279G>A",
"hgvs_p": null,
"transcript": "ENST00000593335.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000593335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"hgvs_c": "n.*312G>A",
"hgvs_p": null,
"transcript": "ENST00000221818.5",
"protein_id": "ENSP00000221818.1",
"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": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000221818.5"
}
],
"gene_symbol": "CCNP",
"gene_hgnc_id": 25805,
"dbsnp": "rs939034770",
"frequency_reference_population": 7.1530144e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.15301e-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": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.257,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001411133.1",
"gene_symbol": "CCNP",
"hgnc_id": 25805,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Ala258Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}