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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: 19-7690231-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7690231&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7690231,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001220500.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"transcript": "NM_001220500.2",
"protein_id": "NP_001207429.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000597921.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"transcript": "ENST00000597921.6",
"protein_id": "ENSP00000471974.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001220500.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"transcript": "ENST00000346664.9",
"protein_id": "ENSP00000264072.6",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"transcript": "NM_002002.5",
"protein_id": "NP_001993.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Phe",
"transcript": "NM_001207019.3",
"protein_id": "NP_001193948.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 320,
"cds_start": 653,
"cds_end": null,
"cds_length": 963,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Phe",
"transcript": "ENST00000360067.8",
"protein_id": "ENSP00000353178.4",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 320,
"cds_start": 653,
"cds_end": null,
"cds_length": 963,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"transcript": "XM_005272462.5",
"protein_id": "XP_005272519.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "n.1181C>T",
"hgvs_p": null,
"transcript": "ENST00000597312.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "n.1018C>T",
"hgvs_p": null,
"transcript": "ENST00000597934.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"hgvs_c": "n.1151C>T",
"hgvs_p": null,
"transcript": "ENST00000598803.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCER2",
"gene_hgnc_id": 3612,
"dbsnp": "rs144339823",
"frequency_reference_population": 0.00002788225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000280485,
"gnomad_genomes_af": 0.0000262857,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39597946405410767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.781,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001220500.2",
"gene_symbol": "FCER2",
"hgnc_id": 3612,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe"
}
],
"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
}