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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: 1-157521241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=157521241&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 157521241,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001195388.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val",
"transcript": "NM_031281.3",
"protein_id": "NP_112571.2",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 977,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361835.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031281.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val",
"transcript": "ENST00000361835.8",
"protein_id": "ENSP00000354691.3",
"transcript_support_level": 1,
"aa_start": 764,
"aa_end": null,
"aa_length": 977,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031281.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361835.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val",
"transcript": "NM_001195388.2",
"protein_id": "NP_001182317.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 998,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195388.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val",
"transcript": "ENST00000908742.1",
"protein_id": "ENSP00000578801.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 938,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908742.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2036C>T",
"hgvs_p": "p.Ala679Val",
"transcript": "XM_011510030.3",
"protein_id": "XP_011508332.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 892,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510030.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Ala671Val",
"transcript": "XM_011510031.3",
"protein_id": "XP_011508333.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 884,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510031.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Ala671Val",
"transcript": "XM_011510032.3",
"protein_id": "XP_011508334.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 884,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510032.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val",
"transcript": "XM_011510033.3",
"protein_id": "XP_011508335.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 844,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510033.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "n.1554C>T",
"hgvs_p": null,
"transcript": "ENST00000461387.5",
"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": "pseudogene",
"feature": "ENST00000461387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"hgvs_c": "n.1384C>T",
"hgvs_p": null,
"transcript": "ENST00000497286.5",
"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": "pseudogene",
"feature": "ENST00000497286.5"
}
],
"gene_symbol": "FCRL5",
"gene_hgnc_id": 18508,
"dbsnp": "rs774152161",
"frequency_reference_population": 0.000021066406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000191551,
"gnomad_genomes_af": 0.0000394244,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0269320011138916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0701,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.085,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001195388.2",
"gene_symbol": "FCRL5",
"hgnc_id": 18508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2291C>T",
"hgvs_p": "p.Ala764Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}