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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: 7-94423080-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94423080&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94423080,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000089.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "NM_000089.4",
"protein_id": "NP_000080.2",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2527,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297268.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000089.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "ENST00000297268.11",
"protein_id": "ENSP00000297268.6",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2527,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000089.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297268.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "ENST00000959377.1",
"protein_id": "ENSP00000629436.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1365,
"cds_start": 2527,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959377.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "ENST00000959379.1",
"protein_id": "ENSP00000629438.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1365,
"cds_start": 2527,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959379.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "ENST00000959378.1",
"protein_id": "ENSP00000629437.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2512,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959378.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Ala825Thr",
"transcript": "ENST00000959382.1",
"protein_id": "ENSP00000629441.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2473,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959382.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Ala633Thr",
"transcript": "ENST00000959381.1",
"protein_id": "ENSP00000629440.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1897,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959381.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Ala432Thr",
"transcript": "ENST00000959383.1",
"protein_id": "ENSP00000629442.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 955,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.739-2530G>A",
"hgvs_p": null,
"transcript": "ENST00000959380.1",
"protein_id": "ENSP00000629439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "n.610G>A",
"hgvs_p": null,
"transcript": "ENST00000481570.5",
"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": "retained_intron",
"feature": "ENST00000481570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "n.924G>A",
"hgvs_p": null,
"transcript": "ENST00000497316.5",
"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": "retained_intron",
"feature": "ENST00000497316.5"
}
],
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"dbsnp": "rs112697991",
"frequency_reference_population": 0.00001920506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000150491,
"gnomad_genomes_af": 0.0000591048,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15888836979866028,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.718,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "PM1,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000089.4",
"gene_symbol": "COL1A2",
"hgnc_id": 2198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr"
}
],
"clinvar_disease": " 1, classic type,Ehlers-Danlos syndrome,Osteogenesis imperfecta type I,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Ehlers-Danlos syndrome, classic type, 1;Osteogenesis imperfecta type I|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}