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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: 1-169727474-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169727474&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169727474,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000450.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Ser507Asn",
"transcript": "NM_000450.2",
"protein_id": "NP_000441.2",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 610,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333360.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000450.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Ser507Asn",
"transcript": "ENST00000333360.12",
"protein_id": "ENSP00000331736.7",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 610,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000450.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333360.12"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Ser444Asn",
"transcript": "ENST00000367776.5",
"protein_id": "ENSP00000356750.1",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 547,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367776.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Ser444Asn",
"transcript": "ENST00000367777.5",
"protein_id": "ENSP00000356751.1",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 547,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367777.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Ser382Asn",
"transcript": "ENST00000367775.5",
"protein_id": "ENSP00000356749.1",
"transcript_support_level": 5,
"aa_start": 382,
"aa_end": null,
"aa_length": 485,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367775.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Ser381Asn",
"transcript": "ENST00000367774.1",
"protein_id": "ENSP00000356748.1",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 484,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "n.851+43542C>T",
"hgvs_p": null,
"transcript": "ENST00000498289.5",
"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": "ENST00000498289.5"
}
],
"gene_symbol": "SELE",
"gene_hgnc_id": 10718,
"dbsnp": "rs375754478",
"frequency_reference_population": 0.00005142299,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000465166,
"gnomad_genomes_af": 0.0000985416,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07140156626701355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.337,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000450.2",
"gene_symbol": "SELE",
"hgnc_id": 10718,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Ser507Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000498289.5",
"gene_symbol": "FIRRM",
"hgnc_id": 25565,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.851+43542C>T",
"hgvs_p": null
}
],
"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
}