← Back to variant description
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: 4-77161495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=77161495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CCNG2",
"hgnc_id": 1593,
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_004354.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004354.3",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316355.10",
"protein_coding": true,
"protein_id": "NP_004345.1",
"strand": true,
"transcript": "NM_004354.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000316355.10",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004354.3",
"protein_coding": true,
"protein_id": "ENSP00000315743.5",
"strand": true,
"transcript": "ENST00000316355.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395640.5",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379002.1",
"strand": true,
"transcript": "ENST00000395640.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000497512.5",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "n.825C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497512.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000502280.5",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424665.1",
"strand": true,
"transcript": "ENST00000502280.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863383.1",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533442.1",
"strand": true,
"transcript": "ENST00000863383.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863384.1",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533443.1",
"strand": true,
"transcript": "ENST00000863384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863385.1",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533444.1",
"strand": true,
"transcript": "ENST00000863385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957897.1",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627956.1",
"strand": true,
"transcript": "ENST00000957897.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 304,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 650,
"cds_end": null,
"cds_length": 915,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000509972.1",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426476.1",
"strand": true,
"transcript": "ENST00000509972.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011532398.2",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530700.1",
"strand": true,
"transcript": "XM_011532398.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5935,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1035,
"cds_start": 543,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011532399.3",
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ser181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530701.1",
"strand": true,
"transcript": "XM_011532399.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772709047",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000065720296,
"gene_hgnc_id": 1593,
"gene_symbol": "CCNG2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657203,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.036,
"pos": 77161495,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004354.3"
}
]
}