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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: 1-109674766-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109674766&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109674766,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000848.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.587C>A",
"hgvs_p": "p.Ala196Asp",
"transcript": "NM_000848.4",
"protein_id": "NP_000839.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 218,
"cds_start": 587,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000241337.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000848.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.587C>A",
"hgvs_p": "p.Ala196Asp",
"transcript": "ENST00000241337.9",
"protein_id": "ENSP00000241337.4",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 218,
"cds_start": 587,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000848.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241337.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.255+3183C>A",
"hgvs_p": null,
"transcript": "ENST00000414179.6",
"protein_id": "ENSP00000404662.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414179.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.860C>A",
"hgvs_p": "p.Ala287Asp",
"transcript": "ENST00000864527.1",
"protein_id": "ENSP00000534586.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 309,
"cds_start": 860,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864527.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.647C>A",
"hgvs_p": "p.Ala216Asp",
"transcript": "ENST00000864529.1",
"protein_id": "ENSP00000534588.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 238,
"cds_start": 647,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864529.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ala215Asp",
"transcript": "ENST00000864528.1",
"protein_id": "ENSP00000534587.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 237,
"cds_start": 644,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864528.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.584C>A",
"hgvs_p": "p.Ala195Asp",
"transcript": "ENST00000942832.1",
"protein_id": "ENSP00000612891.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 217,
"cds_start": 584,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942832.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Ala161Asp",
"transcript": "ENST00000942833.1",
"protein_id": "ENSP00000612892.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 183,
"cds_start": 482,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942833.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000369827.7",
"protein_id": "ENSP00000358842.4",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 181,
"cds_start": 476,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369827.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.419C>A",
"hgvs_p": "p.Ala140Asp",
"transcript": "ENST00000918996.1",
"protein_id": "ENSP00000589055.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 162,
"cds_start": 419,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918996.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.404C>A",
"hgvs_p": "p.Ala135Asp",
"transcript": "ENST00000864530.1",
"protein_id": "ENSP00000534589.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 157,
"cds_start": 404,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.567+3183C>A",
"hgvs_p": null,
"transcript": "ENST00000369831.6",
"protein_id": "ENSP00000358846.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369831.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.567+3183C>A",
"hgvs_p": null,
"transcript": "NM_001142368.2",
"protein_id": "NP_001135840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.567+3183C>A",
"hgvs_p": null,
"transcript": "ENST00000442650.5",
"protein_id": "ENSP00000416883.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "c.567+3183C>A",
"hgvs_p": null,
"transcript": "ENST00000460717.8",
"protein_id": "ENSP00000435910.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460717.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "n.804C>A",
"hgvs_p": null,
"transcript": "ENST00000472225.6",
"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": "retained_intron",
"feature": "ENST00000472225.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"hgvs_c": "n.855C>A",
"hgvs_p": null,
"transcript": "ENST00000496578.3",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000496578.3"
}
],
"gene_symbol": "GSTM2",
"gene_hgnc_id": 4634,
"dbsnp": "rs1217221217",
"frequency_reference_population": 0.0000018586462,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22024238109588623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.1688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.53,
"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_000848.4",
"gene_symbol": "GSTM2",
"hgnc_id": 4634,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.587C>A",
"hgvs_p": "p.Ala196Asp"
}
],
"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
}