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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: 1-207468605-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207468605&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207468605,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367057.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "NM_001006658.3",
"protein_id": "NP_001006659.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1092,
"cds_start": 524,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "ENST00000367057.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "ENST00000367057.8",
"protein_id": "ENSP00000356024.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 1092,
"cds_start": 524,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "NM_001006658.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "ENST00000367058.7",
"protein_id": "ENSP00000356025.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 1033,
"cds_start": 524,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "ENST00000367059.3",
"protein_id": "ENSP00000356026.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 971,
"cds_start": 524,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "NM_001877.5",
"protein_id": "NP_001868.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1033,
"cds_start": 524,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Pro52Arg",
"transcript": "ENST00000699620.1",
"protein_id": "ENSP00000514480.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 910,
"cds_start": 155,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Pro85Arg",
"transcript": "ENST00000699621.1",
"protein_id": "ENSP00000514481.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 898,
"cds_start": 254,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 3411,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "n.300C>G",
"hgvs_p": null,
"transcript": "ENST00000485707.1",
"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": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"hgvs_c": "c.*69C>G",
"hgvs_p": null,
"transcript": "ENST00000699640.1",
"protein_id": "ENSP00000514493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": -4,
"cds_end": null,
"cds_length": 86,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CR2",
"gene_hgnc_id": 2336,
"dbsnp": "rs75282758",
"frequency_reference_population": 0.0000080547925,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000061569,
"gnomad_genomes_af": 0.000026286,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6821016669273376,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.429,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.262,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.53,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367057.8",
"gene_symbol": "CR2",
"hgnc_id": 2336,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}