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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: 7-6330775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6330775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6330775,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001037163.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM220A",
"gene_hgnc_id": 22422,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "NM_001037163.2",
"protein_id": "NP_001032240.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313324.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037163.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM220A",
"gene_hgnc_id": 22422,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000313324.9",
"protein_id": "ENSP00000317289.4",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037163.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313324.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM10L3",
"gene_hgnc_id": 56768,
"hgvs_c": "c.*440G>A",
"hgvs_p": null,
"transcript": "NM_001395995.1",
"protein_id": "NP_001382924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000578372.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395995.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM10L3",
"gene_hgnc_id": 56768,
"hgvs_c": "c.*440G>A",
"hgvs_p": null,
"transcript": "ENST00000578372.2",
"protein_id": "ENSP00000464009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395995.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578372.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM220A",
"gene_hgnc_id": 22422,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000524898.2",
"protein_id": "ENSP00000432444.2",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524898.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM220A",
"gene_hgnc_id": 22422,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000530143.2",
"protein_id": "ENSP00000436886.2",
"transcript_support_level": 4,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530143.2"
}
],
"gene_symbol": "FAM220A",
"gene_hgnc_id": 22422,
"dbsnp": "rs3750040",
"frequency_reference_population": 0.5296168,
"hom_count_reference_population": 237434,
"allele_count_reference_population": 854721,
"gnomad_exomes_af": 0.520921,
"gnomad_genomes_af": 0.613263,
"gnomad_exomes_ac": 761516,
"gnomad_genomes_ac": 93205,
"gnomad_exomes_homalt": 206887,
"gnomad_genomes_homalt": 30547,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011992869985988364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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_001037163.2",
"gene_symbol": "FAM220A",
"hgnc_id": 22422,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001395995.1",
"gene_symbol": "SMIM10L3",
"hgnc_id": 56768,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*440G>A",
"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
}