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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: 7-90160861-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90160861&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90160861,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012449.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "NM_012449.3",
"protein_id": "NP_036581.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 339,
"cds_start": 141,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297205.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012449.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000297205.7",
"protein_id": "ENSP00000297205.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 339,
"cds_start": 141,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012449.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297205.7"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "n.260C>G",
"hgvs_p": null,
"transcript": "ENST00000475789.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000475789.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000892309.1",
"protein_id": "ENSP00000562368.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 339,
"cds_start": 141,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892309.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000927746.1",
"protein_id": "ENSP00000597805.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 339,
"cds_start": 141,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927746.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000955229.1",
"protein_id": "ENSP00000625288.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 339,
"cds_start": 141,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955229.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000927745.1",
"protein_id": "ENSP00000597804.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 337,
"cds_start": 141,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927745.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000955230.1",
"protein_id": "ENSP00000625289.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 325,
"cds_start": 141,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955230.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "STEAP1",
"gene_hgnc_id": 11378,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln",
"transcript": "ENST00000955231.1",
"protein_id": "ENSP00000625290.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 325,
"cds_start": 141,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STEAP2-AS1",
"gene_hgnc_id": 40820,
"hgvs_c": "n.424+48990G>C",
"hgvs_p": null,
"transcript": "ENST00000478318.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478318.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STEAP2-AS1",
"gene_hgnc_id": 40820,
"hgvs_c": "n.455-40900G>C",
"hgvs_p": null,
"transcript": "ENST00000718155.1",
"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": "ENST00000718155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STEAP2-AS1",
"gene_hgnc_id": 40820,
"hgvs_c": "n.424+48990G>C",
"hgvs_p": null,
"transcript": "NR_110029.2",
"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_110029.2"
}
],
"gene_symbol": "STEAP1",
"gene_hgnc_id": 11378,
"dbsnp": "rs4015375",
"frequency_reference_population": 0.0010676221,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1546,
"gnomad_exomes_af": 0.000497337,
"gnomad_genomes_af": 0.0066107,
"gnomad_exomes_ac": 653,
"gnomad_genomes_ac": 893,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0075550079345703125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.08,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_012449.3",
"gene_symbol": "STEAP1",
"hgnc_id": 11378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.141C>G",
"hgvs_p": "p.His47Gln"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000478318.6",
"gene_symbol": "STEAP2-AS1",
"hgnc_id": 40820,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.424+48990G>C",
"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
}