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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: 1-207609586-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207609586&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207609586,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367049.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.6193A>G",
"hgvs_p": "p.Ile2065Val",
"transcript": "NM_000651.6",
"protein_id": "NP_000642.3",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6193,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 6304,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "ENST00000367049.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.6193A>G",
"hgvs_p": "p.Ile2065Val",
"transcript": "ENST00000367049.9",
"protein_id": "ENSP00000356016.4",
"transcript_support_level": 5,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6193,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 6304,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "NM_000651.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4843A>G",
"hgvs_p": "p.Ile1615Val",
"transcript": "ENST00000400960.7",
"protein_id": "ENSP00000383744.2",
"transcript_support_level": 1,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4843,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4964,
"cdna_end": null,
"cdna_length": 8597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4843A>G",
"hgvs_p": "p.Ile1615Val",
"transcript": "ENST00000367051.6",
"protein_id": "ENSP00000356018.1",
"transcript_support_level": 5,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4843,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4868,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4843A>G",
"hgvs_p": "p.Ile1615Val",
"transcript": "ENST00000367052.6",
"protein_id": "ENSP00000356019.1",
"transcript_support_level": 5,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4843,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4868,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4843A>G",
"hgvs_p": "p.Ile1615Val",
"transcript": "ENST00000367053.6",
"protein_id": "ENSP00000356020.1",
"transcript_support_level": 5,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4843,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4868,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.1178-6989A>G",
"hgvs_p": null,
"transcript": "ENST00000529814.1",
"protein_id": "ENSP00000434718.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.*1958A>G",
"hgvs_p": null,
"transcript": "ENST00000534202.5",
"protein_id": "ENSP00000436139.2",
"transcript_support_level": 5,
"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": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"dbsnp": "rs6691117",
"frequency_reference_population": 0.25826478,
"hom_count_reference_population": 69496,
"allele_count_reference_population": 416438,
"gnomad_exomes_af": 0.243449,
"gnomad_genomes_af": 0.400529,
"gnomad_exomes_ac": 355524,
"gnomad_genomes_ac": 60914,
"gnomad_exomes_homalt": 52693,
"gnomad_genomes_homalt": 16803,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000006296976607700344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.06,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.964,
"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": "ENST00000367049.9",
"gene_symbol": "CR1",
"hgnc_id": 2334,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.6193A>G",
"hgvs_p": "p.Ile2065Val"
}
],
"clinvar_disease": "CR1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|CR1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}