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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: 16-768802-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=768802&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 768802,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000545450.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "NM_005823.6",
"protein_id": "NP_005814.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": "ENST00000545450.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000545450.7",
"protein_id": "ENSP00000442965.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": "NM_005823.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000563941.5",
"protein_id": "ENSP00000456008.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000566549.5",
"protein_id": "ENSP00000456702.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Ile",
"transcript": "ENST00000561896.1",
"protein_id": "ENSP00000457847.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 397,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1195,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "NM_013404.4",
"protein_id": "NP_037536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000382862.7",
"protein_id": "ENSP00000372313.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "NM_001177355.3",
"protein_id": "NP_001170826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000566269.6",
"protein_id": "ENSP00000454295.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MSLN",
"gene_hgnc_id": 7371,
"dbsnp": "rs1057147",
"frequency_reference_population": 0.20657979,
"hom_count_reference_population": 31981,
"allele_count_reference_population": 304982,
"gnomad_exomes_af": 0.206184,
"gnomad_genomes_af": 0.210029,
"gnomad_exomes_ac": 273063,
"gnomad_genomes_ac": 31919,
"gnomad_exomes_homalt": 28566,
"gnomad_genomes_homalt": 3415,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004366010427474976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0983,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000545450.7",
"gene_symbol": "MSLN",
"hgnc_id": 7371,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*69G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}