← Back to variant description
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: 3-105524359-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105524359&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105524359,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001627.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "NM_001627.4",
"protein_id": "NP_001618.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 583,
"cds_start": 245,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": "ENST00000306107.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "ENST00000306107.9",
"protein_id": "ENSP00000305988.5",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 583,
"cds_start": 245,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": "NM_001627.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "ENST00000472644.6",
"protein_id": "ENSP00000419236.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 570,
"cds_start": 245,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "n.736A>G",
"hgvs_p": null,
"transcript": "ENST00000470756.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "NM_001243280.2",
"protein_id": "NP_001230209.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 570,
"cds_start": 245,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "NM_001243281.2",
"protein_id": "NP_001230210.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 555,
"cds_start": 245,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asp31Gly",
"transcript": "ENST00000486979.6",
"protein_id": "ENSP00000418213.2",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 532,
"cds_start": 92,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"transcript": "NM_001243283.2",
"protein_id": "NP_001230212.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 133,
"cds_start": 245,
"cds_end": null,
"cds_length": 402,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"hgvs_c": "n.374A>G",
"hgvs_p": null,
"transcript": "ENST00000481337.5",
"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": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALCAM",
"gene_hgnc_id": 400,
"dbsnp": "rs759732563",
"frequency_reference_population": 0.0000024783517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46488481760025024,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.1927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.343,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001627.4",
"gene_symbol": "ALCAM",
"hgnc_id": 400,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}