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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: 15-65058547-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65058547&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65058547,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016563.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Ser102Asn",
"transcript": "NM_016563.4",
"protein_id": "NP_057647.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 266,
"cds_start": 305,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220062.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016563.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Ser102Asn",
"transcript": "ENST00000220062.9",
"protein_id": "ENSP00000220062.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 266,
"cds_start": 305,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016563.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220062.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Ser91Asn",
"transcript": "NM_001379429.1",
"protein_id": "NP_001366358.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 255,
"cds_start": 272,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379429.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Ser91Asn",
"transcript": "ENST00000434605.2",
"protein_id": "ENSP00000412787.2",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 255,
"cds_start": 272,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434605.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Ser83Asn",
"transcript": "NM_001307930.2",
"protein_id": "NP_001294859.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 247,
"cds_start": 248,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307930.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Ser83Asn",
"transcript": "ENST00000421977.7",
"protein_id": "ENSP00000390028.3",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 247,
"cds_start": 248,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421977.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Ser97Asn",
"transcript": "XM_011521660.4",
"protein_id": "XP_011519962.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 261,
"cds_start": 290,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521660.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Ser102Asn",
"transcript": "XM_017022296.2",
"protein_id": "XP_016877785.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 166,
"cds_start": 305,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022296.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Ser102Asn",
"transcript": "XM_005254434.5",
"protein_id": "XP_005254491.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 151,
"cds_start": 305,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254434.5"
}
],
"gene_symbol": "RASL12",
"gene_hgnc_id": 30289,
"dbsnp": "rs762135329",
"frequency_reference_population": 0.000022962227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000239879,
"gnomad_genomes_af": 0.000013134,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20588889718055725,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.1217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.547,
"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_016563.4",
"gene_symbol": "RASL12",
"hgnc_id": 30289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Ser102Asn"
}
],
"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
}