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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: 1-207480050-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207480050&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207480050,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001006658.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.3185C>A",
"hgvs_p": "p.Ala1062Glu",
"transcript": "NM_001006658.3",
"protein_id": "NP_001006659.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367057.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006658.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.3185C>A",
"hgvs_p": "p.Ala1062Glu",
"transcript": "ENST00000367057.8",
"protein_id": "ENSP00000356024.3",
"transcript_support_level": 1,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001006658.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367057.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.3008C>A",
"hgvs_p": "p.Ala1003Glu",
"transcript": "ENST00000367058.7",
"protein_id": "ENSP00000356025.3",
"transcript_support_level": 1,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1033,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367058.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2822C>A",
"hgvs_p": "p.Ala941Glu",
"transcript": "ENST00000367059.3",
"protein_id": "ENSP00000356026.3",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 971,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367059.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.3008C>A",
"hgvs_p": "p.Ala1003Glu",
"transcript": "NM_001877.5",
"protein_id": "NP_001868.2",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1033,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001877.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2831C>A",
"hgvs_p": "p.Ala944Glu",
"transcript": "ENST00000923186.1",
"protein_id": "ENSP00000593245.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 974,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923186.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2777C>A",
"hgvs_p": "p.Ala926Glu",
"transcript": "ENST00000864103.1",
"protein_id": "ENSP00000534162.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 956,
"cds_start": 2777,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864103.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2639C>A",
"hgvs_p": "p.Ala880Glu",
"transcript": "ENST00000699620.1",
"protein_id": "ENSP00000514480.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 910,
"cds_start": 2639,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699620.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2603C>A",
"hgvs_p": "p.Ala868Glu",
"transcript": "ENST00000699621.1",
"protein_id": "ENSP00000514481.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 898,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699621.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.2600C>A",
"hgvs_p": "p.Ala867Glu",
"transcript": "ENST00000923187.1",
"protein_id": "ENSP00000593246.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 897,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923187.1"
}
],
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"dbsnp": "rs17617",
"frequency_reference_population": 0.86028916,
"hom_count_reference_population": 597269,
"allele_count_reference_population": 1384090,
"gnomad_exomes_af": 0.857521,
"gnomad_genomes_af": 0.886773,
"gnomad_exomes_ac": 1249093,
"gnomad_genomes_ac": 134997,
"gnomad_exomes_homalt": 537032,
"gnomad_genomes_homalt": 60237,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 7.162717565734056e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.06,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.173,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001006658.3",
"gene_symbol": "CR2",
"hgnc_id": 2336,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.3185C>A",
"hgvs_p": "p.Ala1062Glu"
}
],
"clinvar_disease": " 7, common variable,Immunodeficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6 O:1",
"phenotype_combined": "not specified|not provided|Immunodeficiency, common variable, 7",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}