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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: 17-28720857-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28720857&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28720857,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000422514.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Lys59Arg",
"transcript": "NM_000984.6",
"protein_id": "NP_000975.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 156,
"cds_start": 176,
"cds_end": null,
"cds_length": 471,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 970,
"mane_select": "ENST00000422514.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Lys59Arg",
"transcript": "ENST00000422514.7",
"protein_id": "ENSP00000389103.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 156,
"cds_start": 176,
"cds_end": null,
"cds_length": 471,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 970,
"mane_select": "NM_000984.6",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "n.191A>G",
"hgvs_p": null,
"transcript": "ENST00000582736.1",
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.-83A>G",
"hgvs_p": null,
"transcript": "ENST00000472628.1",
"protein_id": "ENSP00000466425.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.Lys97Arg",
"transcript": "ENST00000394938.8",
"protein_id": "ENSP00000378396.4",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 194,
"cds_start": 290,
"cds_end": null,
"cds_length": 585,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Lys78Arg",
"transcript": "ENST00000394935.7",
"protein_id": "ENSP00000468402.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 175,
"cds_start": 233,
"cds_end": null,
"cds_length": 528,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Lys51Arg",
"transcript": "ENST00000578181.1",
"protein_id": "ENSP00000465342.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 169,
"cds_start": 152,
"cds_end": null,
"cds_length": 510,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"transcript": "ENST00000355731.8",
"protein_id": "ENSP00000347969.4",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 157,
"cds_start": 179,
"cds_end": null,
"cds_length": 474,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"hgvs_c": "c.-83A>G",
"hgvs_p": null,
"transcript": "ENST00000496182.5",
"protein_id": "ENSP00000468172.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD42B",
"gene_hgnc_id": 10181,
"hgvs_c": "n.*241A>G",
"hgvs_p": null,
"transcript": "ENST00000458893.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 67,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD42B",
"gene_hgnc_id": 10181,
"hgvs_c": "n.*241A>G",
"hgvs_p": null,
"transcript": "NR_000013.1",
"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": 67,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPL23A",
"gene_hgnc_id": 10317,
"dbsnp": "rs61738395",
"frequency_reference_population": 0.00023976834,
"hom_count_reference_population": 5,
"allele_count_reference_population": 387,
"gnomad_exomes_af": 0.000240113,
"gnomad_genomes_af": 0.000236463,
"gnomad_exomes_ac": 351,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012814104557037354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.399,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1137,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.163,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000422514.7",
"gene_symbol": "RPL23A",
"hgnc_id": 10317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Lys59Arg"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_000013.1",
"gene_symbol": "SNORD42B",
"hgnc_id": 10181,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*241A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}