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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: 6-50836165-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=50836165&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 50836165,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393655.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Ser",
"transcript": "NM_003221.4",
"protein_id": "NP_003212.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 460,
"cds_start": 706,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": "ENST00000393655.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Ser",
"transcript": "ENST00000393655.4",
"protein_id": "ENSP00000377265.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 460,
"cds_start": 706,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": "NM_003221.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Ser",
"transcript": "XM_017011233.2",
"protein_id": "XP_016866722.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 515,
"cds_start": 871,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.835C>A",
"hgvs_p": "p.Arg279Ser",
"transcript": "XM_017011234.2",
"protein_id": "XP_016866723.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 503,
"cds_start": 835,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.733C>A",
"hgvs_p": "p.Arg245Ser",
"transcript": "XM_011514837.3",
"protein_id": "XP_011513139.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 469,
"cds_start": 733,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 5658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "c.247C>A",
"hgvs_p": "p.Arg83Ser",
"transcript": "XM_017011235.3",
"protein_id": "XP_016866724.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 307,
"cds_start": 247,
"cds_end": null,
"cds_length": 924,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5172,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"hgvs_c": "n.727C>A",
"hgvs_p": null,
"transcript": "XR_007059334.1",
"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": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TFAP2B",
"gene_hgnc_id": 11743,
"dbsnp": "rs80338912",
"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": 0.9889092445373535,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.919,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000393655.4",
"gene_symbol": "TFAP2B",
"hgnc_id": 11743,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Ser"
}
],
"clinvar_disease": "Char syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Char syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}