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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: 1-177230040-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=177230040&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 177230040,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021165.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "NM_021165.4",
"protein_id": "NP_066988.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361539.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021165.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000361539.5",
"protein_id": "ENSP00000354481.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021165.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361539.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944009.1",
"protein_id": "ENSP00000614068.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 800,
"cds_start": 164,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944009.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000907915.1",
"protein_id": "ENSP00000577974.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907915.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000926433.1",
"protein_id": "ENSP00000596492.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926433.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000926434.1",
"protein_id": "ENSP00000596493.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926434.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000926435.1",
"protein_id": "ENSP00000596494.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926435.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944006.1",
"protein_id": "ENSP00000614065.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944006.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944007.1",
"protein_id": "ENSP00000614066.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944007.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000907914.1",
"protein_id": "ENSP00000577973.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 782,
"cds_start": 164,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907914.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944005.1",
"protein_id": "ENSP00000614064.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 782,
"cds_start": 164,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944005.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944008.1",
"protein_id": "ENSP00000614067.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 778,
"cds_start": 164,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944008.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "ENST00000944010.1",
"protein_id": "ENSP00000614069.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 778,
"cds_start": 164,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944010.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "XM_005245379.3",
"protein_id": "XP_005245436.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245379.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg",
"transcript": "XM_024448722.2",
"protein_id": "XP_024304490.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 783,
"cds_start": 164,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448722.2"
}
],
"gene_symbol": "BRINP2",
"gene_hgnc_id": 13746,
"dbsnp": null,
"frequency_reference_population": 6.842267e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84227e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5647781491279602,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2681,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.788,
"phylop100way_prediction": "Uncertain_significance",
"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_021165.4",
"gene_symbol": "BRINP2",
"hgnc_id": 13746,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.164T>G",
"hgvs_p": "p.Leu55Arg"
}
],
"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
}