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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: 14-61280508-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61280508&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61280508,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001017970.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM30B",
"gene_hgnc_id": 27254,
"hgvs_c": "c.640G>C",
"hgvs_p": "p.Gly214Arg",
"transcript": "NM_001017970.3",
"protein_id": "NP_001017970.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 351,
"cds_start": 640,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": "ENST00000555868.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM30B",
"gene_hgnc_id": 27254,
"hgvs_c": "c.640G>C",
"hgvs_p": "p.Gly214Arg",
"transcript": "ENST00000555868.2",
"protein_id": "ENSP00000450842.1",
"transcript_support_level": 6,
"aa_start": 214,
"aa_end": null,
"aa_length": 351,
"cds_start": 640,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": "NM_001017970.3",
"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": "TMEM30B",
"gene_hgnc_id": 27254,
"hgvs_c": "n.627G>C",
"hgvs_p": null,
"transcript": "ENST00000557163.1",
"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": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.-19+92840C>G",
"hgvs_p": null,
"transcript": "ENST00000555185.5",
"protein_id": "ENSP00000451871.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": -4,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.-57+92840C>G",
"hgvs_p": null,
"transcript": "ENST00000556778.5",
"protein_id": "ENSP00000452055.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.-108-41486C>G",
"hgvs_p": null,
"transcript": "ENST00000557294.5",
"protein_id": "ENSP00000452129.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.-121+92840C>G",
"hgvs_p": null,
"transcript": "XM_024449661.2",
"protein_id": "XP_024305429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM30B",
"gene_hgnc_id": 27254,
"dbsnp": "rs2045249145",
"frequency_reference_population": 0.0000013692816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136928,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24667173624038696,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.3436,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.503,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001017970.3",
"gene_symbol": "TMEM30B",
"hgnc_id": 27254,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.640G>C",
"hgvs_p": "p.Gly214Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555185.5",
"gene_symbol": "PRKCH",
"hgnc_id": 9403,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-19+92840C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}