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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: 1-37482928-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37482928&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 37482928,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000373087.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Gln373Glu",
"transcript": "NM_025079.3",
"protein_id": "NP_079355.2",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 599,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "ENST00000373087.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Gln373Glu",
"transcript": "ENST00000373087.7",
"protein_id": "ENSP00000362179.5",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 599,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "NM_025079.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Gln373Glu",
"transcript": "NM_001323550.2",
"protein_id": "NP_001310479.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 599,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.295C>G",
"hgvs_p": "p.Gln99Glu",
"transcript": "NM_001323551.2",
"protein_id": "NP_001310480.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 325,
"cds_start": 295,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Gln254Glu",
"transcript": "XM_047430884.1",
"protein_id": "XP_047286840.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 480,
"cds_start": 760,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 2898,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "n.*349C>G",
"hgvs_p": null,
"transcript": "ENST00000640233.1",
"protein_id": "ENSP00000492053.1",
"transcript_support_level": 5,
"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": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "n.*349C>G",
"hgvs_p": null,
"transcript": "ENST00000640233.1",
"protein_id": "ENSP00000492053.1",
"transcript_support_level": 5,
"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": 2721,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.*12C>G",
"hgvs_p": null,
"transcript": "XM_011542198.3",
"protein_id": "XP_011540500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"hgvs_c": "c.*12C>G",
"hgvs_p": null,
"transcript": "XM_047430885.1",
"protein_id": "XP_047286841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC3H12A",
"gene_hgnc_id": 26259,
"dbsnp": "rs34031609",
"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": 0.03230932354927063,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.213,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000373087.7",
"gene_symbol": "ZC3H12A",
"hgnc_id": 26259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Gln373Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}