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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: 1-156285665-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156285665&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156285665,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032323.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "NM_032323.3",
"protein_id": "NP_115699.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 394,
"cds_start": 439,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405535.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032323.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000405535.3",
"protein_id": "ENSP00000384748.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 394,
"cds_start": 439,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032323.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405535.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000295694.9",
"protein_id": "ENSP00000295694.5",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 394,
"cds_start": 439,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295694.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000905697.1",
"protein_id": "ENSP00000575756.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 394,
"cds_start": 439,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905697.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000913288.1",
"protein_id": "ENSP00000583347.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 394,
"cds_start": 439,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913288.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000913287.1",
"protein_id": "ENSP00000583346.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 336,
"cds_start": 439,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMG5",
"gene_hgnc_id": 24644,
"hgvs_c": "c.-125+968C>T",
"hgvs_p": null,
"transcript": "NM_001323617.2",
"protein_id": "NP_001310546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323617.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.41+398G>A",
"hgvs_p": null,
"transcript": "ENST00000357501.6",
"protein_id": "ENSP00000350100.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357501.6"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "c.41+398G>A",
"hgvs_p": null,
"transcript": "ENST00000456810.1",
"protein_id": "ENSP00000394736.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456810.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "n.356G>A",
"hgvs_p": null,
"transcript": "ENST00000463670.5",
"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": "pseudogene",
"feature": "ENST00000463670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "n.575G>A",
"hgvs_p": null,
"transcript": "ENST00000495881.1",
"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": "pseudogene",
"feature": "ENST00000495881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"hgvs_c": "n.616G>A",
"hgvs_p": null,
"transcript": "NR_026678.2",
"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": "NR_026678.2"
}
],
"gene_symbol": "TMEM79",
"gene_hgnc_id": 28196,
"dbsnp": "rs6684514",
"frequency_reference_population": 0.27721566,
"hom_count_reference_population": 63877,
"allele_count_reference_population": 447359,
"gnomad_exomes_af": 0.281161,
"gnomad_genomes_af": 0.239318,
"gnomad_exomes_ac": 410940,
"gnomad_genomes_ac": 36419,
"gnomad_exomes_homalt": 58988,
"gnomad_genomes_homalt": 4889,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027976036071777344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.36,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032323.3",
"gene_symbol": "TMEM79",
"hgnc_id": 28196,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001323617.2",
"gene_symbol": "SMG5",
"hgnc_id": 24644,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-125+968C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}