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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: 12-6945838-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6945838&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6945838,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000229281.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "NM_138425.4",
"protein_id": "NP_612434.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 126,
"cds_start": 297,
"cds_end": null,
"cds_length": 381,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 561,
"mane_select": "ENST00000229281.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "ENST00000229281.6",
"protein_id": "ENSP00000229281.5",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 126,
"cds_start": 297,
"cds_end": null,
"cds_length": 381,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 561,
"mane_select": "NM_138425.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "NM_001301834.1",
"protein_id": "NP_001288763.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 126,
"cds_start": 297,
"cds_end": null,
"cds_length": 381,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "ENST00000545581.5",
"protein_id": "ENSP00000440602.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 125,
"cds_start": 297,
"cds_end": null,
"cds_length": 380,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.258A>G",
"hgvs_p": "p.Ser86Ser",
"transcript": "NM_001301836.2",
"protein_id": "NP_001288765.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 113,
"cds_start": 258,
"cds_end": null,
"cds_length": 342,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Ser70Ser",
"transcript": "NM_001301837.2",
"protein_id": "NP_001288766.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 97,
"cds_start": 210,
"cds_end": null,
"cds_length": 294,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Ser70Ser",
"transcript": "ENST00000537087.5",
"protein_id": "ENSP00000440937.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 97,
"cds_start": 210,
"cds_end": null,
"cds_length": 294,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Ser64Ser",
"transcript": "NM_001301838.2",
"protein_id": "NP_001288767.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 91,
"cds_start": 192,
"cds_end": null,
"cds_length": 276,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Ser64Ser",
"transcript": "ENST00000540506.2",
"protein_id": "ENSP00000475635.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 91,
"cds_start": 192,
"cds_end": null,
"cds_length": 276,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 551,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "n.475A>G",
"hgvs_p": null,
"transcript": "ENST00000542222.1",
"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": 640,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "n.406A>G",
"hgvs_p": null,
"transcript": "NR_126035.2",
"protein_id": null,
"transcript_support_level": null,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"dbsnp": "rs149881070",
"frequency_reference_population": 0.0002503411,
"hom_count_reference_population": 1,
"allele_count_reference_population": 404,
"gnomad_exomes_af": 0.000263407,
"gnomad_genomes_af": 0.000124849,
"gnomad_exomes_ac": 385,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.174,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000229281.6",
"gene_symbol": "C12orf57",
"hgnc_id": 29521,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser"
}
],
"clinvar_disease": "Temtamy syndrome",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Temtamy syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}