← Back to variant description
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: 10-43201915-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43201915&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43201915,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000395810.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "NM_145313.4",
"protein_id": "NP_660356.2",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 481,
"cds_start": 352,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": "ENST00000395810.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "ENST00000395810.6",
"protein_id": "ENSP00000379155.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 481,
"cds_start": 352,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": "NM_145313.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.376G>C",
"hgvs_p": "p.Val126Leu",
"transcript": "NM_001282862.2",
"protein_id": "NP_001269791.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 489,
"cds_start": 376,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.376G>C",
"hgvs_p": "p.Val126Leu",
"transcript": "ENST00000374459.5",
"protein_id": "ENSP00000363583.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 489,
"cds_start": 376,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "ENST00000395809.5",
"protein_id": "ENSP00000379154.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 481,
"cds_start": 352,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.55G>C",
"hgvs_p": "p.Val19Leu",
"transcript": "ENST00000374455.2",
"protein_id": "ENSP00000363579.2",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 209,
"cds_start": 55,
"cds_end": null,
"cds_length": 631,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Val38Leu",
"transcript": "XM_005271809.4",
"protein_id": "XP_005271866.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 401,
"cds_start": 112,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Val38Leu",
"transcript": "XM_011539500.3",
"protein_id": "XP_011537802.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 401,
"cds_start": 112,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"hgvs_c": "n.362G>C",
"hgvs_p": null,
"transcript": "ENST00000472864.1",
"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": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RASGEF1A",
"gene_hgnc_id": 24246,
"dbsnp": "rs771491443",
"frequency_reference_population": 0.0000037259258,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342892,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1340140998363495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.2161,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.218,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000395810.6",
"gene_symbol": "RASGEF1A",
"hgnc_id": 24246,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}