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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: 12-52015095-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=52015095&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 52015095,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000293662.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_181711.4",
"protein_id": "NP_859062.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 395,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "ENST00000293662.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000293662.9",
"protein_id": "ENSP00000293662.4",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 395,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "NM_181711.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Ser",
"transcript": "ENST00000552049.5",
"protein_id": "ENSP00000449492.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 252,
"cds_start": 655,
"cds_end": null,
"cds_length": 759,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1688,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "n.840G>A",
"hgvs_p": null,
"transcript": "ENST00000552963.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Ser",
"transcript": "NM_001271856.2",
"protein_id": "NP_001258785.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 252,
"cds_start": 655,
"cds_end": null,
"cds_length": 759,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Gly232Ser",
"transcript": "XM_005268691.4",
"protein_id": "XP_005268748.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 265,
"cds_start": 694,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Gly232Ser",
"transcript": "XM_047428439.1",
"protein_id": "XP_047284395.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 265,
"cds_start": 694,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1902,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "n.821G>A",
"hgvs_p": null,
"transcript": "ENST00000552508.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"hgvs_c": "c.*30G>A",
"hgvs_p": null,
"transcript": "ENST00000546756.1",
"protein_id": "ENSP00000448476.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": -4,
"cds_end": null,
"cds_length": 664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAMALIN",
"gene_hgnc_id": 18707,
"dbsnp": "rs200789033",
"frequency_reference_population": 0.010448045,
"hom_count_reference_population": 105,
"allele_count_reference_population": 16232,
"gnomad_exomes_af": 0.0108223,
"gnomad_genomes_af": 0.00698169,
"gnomad_exomes_ac": 15175,
"gnomad_genomes_ac": 1057,
"gnomad_exomes_homalt": 98,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005762308835983276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.1319,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.947,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000293662.9",
"gene_symbol": "TAMALIN",
"hgnc_id": 18707,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser"
}
],
"clinvar_disease": "Anophthalmia-microphthalmia syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Anophthalmia-microphthalmia syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}