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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: 2-11200989-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11200989&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11200989,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000315872.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "NM_004850.5",
"protein_id": "NP_004841.2",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1388,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "ENST00000315872.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "ENST00000315872.11",
"protein_id": "ENSP00000317985.6",
"transcript_support_level": 1,
"aa_start": 960,
"aa_end": null,
"aa_length": 1388,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "NM_004850.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2149G>C",
"hgvs_p": "p.Glu717Gln",
"transcript": "ENST00000401753.5",
"protein_id": "ENSP00000385509.1",
"transcript_support_level": 1,
"aa_start": 717,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "ENST00000697752.1",
"protein_id": "ENSP00000513431.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1445,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2620G>C",
"hgvs_p": "p.Glu874Gln",
"transcript": "NM_001321643.2",
"protein_id": "NP_001308572.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1302,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1189G>C",
"hgvs_p": "p.Glu397Gln",
"transcript": "ENST00000697790.1",
"protein_id": "ENSP00000513442.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 911,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "XM_005246190.4",
"protein_id": "XP_005246247.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "XM_017005378.3",
"protein_id": "XP_016860867.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1404,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 5802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2620G>C",
"hgvs_p": "p.Glu874Gln",
"transcript": "XM_011510417.3",
"protein_id": "XP_011508719.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 7972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2620G>C",
"hgvs_p": "p.Glu874Gln",
"transcript": "XM_017005379.3",
"protein_id": "XP_016860868.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 7827,
"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": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "n.3238G>C",
"hgvs_p": null,
"transcript": "ENST00000697791.1",
"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": 6572,
"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": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "n.3238G>C",
"hgvs_p": null,
"transcript": "ENST00000697792.1",
"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": 6561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"dbsnp": "rs1558285391",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5581978559494019,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
"alphamissense_score": 0.603,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"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": 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": "ENST00000315872.11",
"gene_symbol": "ROCK2",
"hgnc_id": 10252,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}