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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: 2-85326750-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85326750&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85326750,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001368095.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "NM_006464.4",
"protein_id": "NP_006455.2",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 437,
"cds_start": 982,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377386.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006464.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000377386.8",
"protein_id": "ENSP00000366603.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 437,
"cds_start": 982,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006464.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377386.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000409015.5",
"protein_id": "ENSP00000387035.1",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 454,
"cds_start": 982,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409015.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000409232.7",
"protein_id": "ENSP00000386443.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 453,
"cds_start": 982,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409232.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000444342.2",
"protein_id": "ENSP00000391190.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 447,
"cds_start": 982,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444342.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Asp270Asn",
"transcript": "ENST00000398263.6",
"protein_id": "ENSP00000381312.2",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 379,
"cds_start": 808,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398263.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "NM_001368095.1",
"protein_id": "NP_001355024.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 454,
"cds_start": 982,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368095.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "NM_001368096.1",
"protein_id": "NP_001355025.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 453,
"cds_start": 982,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368096.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000971851.1",
"protein_id": "ENSP00000641910.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 409,
"cds_start": 982,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971851.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Asp270Asn",
"transcript": "NM_001206844.2",
"protein_id": "NP_001193773.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 379,
"cds_start": 808,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206844.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307411",
"gene_hgnc_id": null,
"hgvs_c": "n.138C>T",
"hgvs_p": null,
"transcript": "ENST00000825767.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000825767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307411",
"gene_hgnc_id": null,
"hgvs_c": "n.123C>T",
"hgvs_p": null,
"transcript": "ENST00000825768.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000825768.1"
}
],
"gene_symbol": "TGOLN2",
"gene_hgnc_id": 15450,
"dbsnp": "rs752005799",
"frequency_reference_population": 0.0000013682586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136826,
"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": 0.10966116189956665,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.965,
"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": 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": "NM_001368095.1",
"gene_symbol": "TGOLN2",
"hgnc_id": 15450,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000825767.1",
"gene_symbol": "ENSG00000307411",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.138C>T",
"hgvs_p": null
}
],
"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
}