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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: 1-178283587-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=178283587&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 178283587,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001437625.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "NM_170692.4",
"protein_id": "NP_733793.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1280,
"cds_start": 226,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367649.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170692.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "ENST00000367649.8",
"protein_id": "ENSP00000356621.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 1280,
"cds_start": 226,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170692.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367649.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "ENST00000696605.1",
"protein_id": "ENSP00000512749.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1416,
"cds_start": 613,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696605.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "NM_001437625.1",
"protein_id": "NP_001424554.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1290,
"cds_start": 226,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437625.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "NM_001437626.1",
"protein_id": "NP_001424555.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1287,
"cds_start": 226,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437626.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "ENST00000902905.1",
"protein_id": "ENSP00000572964.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1287,
"cds_start": 226,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902905.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser",
"transcript": "NM_001437627.1",
"protein_id": "NP_001424556.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1283,
"cds_start": 226,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437627.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "XM_017002849.2",
"protein_id": "XP_016858338.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1419,
"cds_start": 613,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002849.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "XM_017002850.2",
"protein_id": "XP_016858339.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1416,
"cds_start": 613,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002850.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "XM_017002851.2",
"protein_id": "XP_016858340.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1412,
"cds_start": 613,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002851.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "XM_017002852.2",
"protein_id": "XP_016858341.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1409,
"cds_start": 613,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002852.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Arg20Ser",
"transcript": "XM_017002853.2",
"protein_id": "XP_016858342.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1234,
"cds_start": 58,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002853.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "n.550C>A",
"hgvs_p": null,
"transcript": "ENST00000465723.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465723.1"
}
],
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"dbsnp": "rs368618531",
"frequency_reference_population": 0.0000013686481,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136865,
"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": 0.6458550691604614,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.7016,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.663,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001437625.1",
"gene_symbol": "RASAL2",
"hgnc_id": 9874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}