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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: 1-190099078-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=190099078&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 190099078,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367462.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "NM_199051.3",
"protein_id": "NP_950252.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "ENST00000367462.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "ENST00000367462.5",
"protein_id": "ENSP00000356432.3",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "NM_199051.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "NM_001317188.2",
"protein_id": "NP_001304117.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 664,
"cds_start": 935,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "XM_017001125.2",
"protein_id": "XP_016856614.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "XM_017001126.2",
"protein_id": "XP_016856615.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "XM_047419245.1",
"protein_id": "XP_047275201.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp",
"transcript": "XM_047419250.1",
"protein_id": "XP_047275206.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 766,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Gly384Asp",
"transcript": "XM_011509472.3",
"protein_id": "XP_011507774.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 736,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Gly384Asp",
"transcript": "XM_017001127.2",
"protein_id": "XP_016856616.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 736,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Gly384Asp",
"transcript": "XM_017001128.2",
"protein_id": "XP_016856617.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 736,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Gly371Asp",
"transcript": "XM_011509475.3",
"protein_id": "XP_011507777.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 723,
"cds_start": 1112,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "XM_011509476.3",
"protein_id": "XP_011507778.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 664,
"cds_start": 935,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "XM_017001129.2",
"protein_id": "XP_016856618.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 664,
"cds_start": 935,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRINP3",
"gene_hgnc_id": 22393,
"dbsnp": "rs34098782",
"frequency_reference_population": 0.0000013681575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136816,
"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": 0.4633546471595764,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.351,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2726,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.392,
"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": "ENST00000367462.5",
"gene_symbol": "BRINP3",
"hgnc_id": 22393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Gly414Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}