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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: 7-94429311-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94429311&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94429311,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000089.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Met1279Leu",
"transcript": "NM_000089.4",
"protein_id": "NP_000080.2",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "ENST00000297268.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000089.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Met1279Leu",
"transcript": "ENST00000297268.11",
"protein_id": "ENSP00000297268.6",
"transcript_support_level": 1,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "NM_000089.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297268.11"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3832A>C",
"hgvs_p": "p.Met1278Leu",
"transcript": "ENST00000959377.1",
"protein_id": "ENSP00000629436.1",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3832,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4044,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959377.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3832A>C",
"hgvs_p": "p.Met1278Leu",
"transcript": "ENST00000959379.1",
"protein_id": "ENSP00000629438.1",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3832,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 3969,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959379.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3820A>C",
"hgvs_p": "p.Met1274Leu",
"transcript": "ENST00000959378.1",
"protein_id": "ENSP00000629437.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 3913,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959378.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3781A>C",
"hgvs_p": "p.Met1261Leu",
"transcript": "ENST00000959382.1",
"protein_id": "ENSP00000629441.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3781,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959382.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.3205A>C",
"hgvs_p": "p.Met1069Leu",
"transcript": "ENST00000959381.1",
"protein_id": "ENSP00000629440.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959381.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.2602A>C",
"hgvs_p": "p.Met868Leu",
"transcript": "ENST00000959383.1",
"protein_id": "ENSP00000629442.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 955,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959383.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "c.1792A>C",
"hgvs_p": "p.Met598Leu",
"transcript": "ENST00000959380.1",
"protein_id": "ENSP00000629439.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 685,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2465,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "n.883A>C",
"hgvs_p": null,
"transcript": "ENST00000464916.1",
"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": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"hgvs_c": "n.4616A>C",
"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": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481570.5"
}
],
"gene_symbol": "COL1A2",
"gene_hgnc_id": 2198,
"dbsnp": "rs775850964",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2626091241836548,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.655,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 2,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000089.4",
"gene_symbol": "COL1A2",
"hgnc_id": 2198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Met1279Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}