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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: 12-6846892-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6846892&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6846892,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000229264.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.1017G>C",
"hgvs_p": "p.Trp339Cys",
"transcript": "NM_002075.4",
"protein_id": "NP_002066.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 340,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "ENST00000229264.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.1017G>C",
"hgvs_p": "p.Trp339Cys",
"transcript": "ENST00000229264.8",
"protein_id": "ENSP00000229264.3",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 340,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "NM_002075.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.1014G>C",
"hgvs_p": "p.Trp338Cys",
"transcript": "ENST00000435982.6",
"protein_id": "ENSP00000414734.2",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.1014G>C",
"hgvs_p": "p.Trp338Cys",
"transcript": "NM_001297571.2",
"protein_id": "NP_001284500.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA3",
"gene_hgnc_id": 14624,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Pro186Ala",
"transcript": "NM_001297603.3",
"protein_id": "NP_001284532.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 219,
"cds_start": 556,
"cds_end": null,
"cds_length": 660,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA3",
"gene_hgnc_id": 14624,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Pro186Ala",
"transcript": "ENST00000422785.7",
"protein_id": "ENSP00000415142.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 219,
"cds_start": 556,
"cds_end": null,
"cds_length": 660,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.1017G>C",
"hgvs_p": "p.Trp339Cys",
"transcript": "XM_047428703.1",
"protein_id": "XP_047284659.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 340,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.2368G>C",
"hgvs_p": null,
"transcript": "ENST00000540458.5",
"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": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.537G>C",
"hgvs_p": null,
"transcript": "ENST00000542751.1",
"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": 997,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA3",
"gene_hgnc_id": 14624,
"hgvs_c": "n.319C>G",
"hgvs_p": null,
"transcript": "ENST00000603043.1",
"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": 1995,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA3",
"gene_hgnc_id": 14624,
"hgvs_c": "n.824C>G",
"hgvs_p": null,
"transcript": "ENST00000604599.1",
"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": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.*923G>C",
"hgvs_p": null,
"transcript": "XM_011520953.4",
"protein_id": "XP_011519255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.*923G>C",
"hgvs_p": null,
"transcript": "XM_047428702.1",
"protein_id": "XP_047284658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"dbsnp": "rs879253773",
"frequency_reference_population": 0.000006352406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000635241,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4068358540534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.777,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9958,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.917,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000229264.8",
"gene_symbol": "GNB3",
"hgnc_id": 4400,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.1017G>C",
"hgvs_p": "p.Trp339Cys"
},
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001297603.3",
"gene_symbol": "CDCA3",
"hgnc_id": 14624,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Pro186Ala"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}