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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: 1-159809674-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159809674&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159809674,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000368106.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.877T>C",
"hgvs_p": "p.Ser293Pro",
"transcript": "NM_001004310.3",
"protein_id": "NP_001004310.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 434,
"cds_start": 877,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": "ENST00000368106.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.877T>C",
"hgvs_p": "p.Ser293Pro",
"transcript": "ENST00000368106.4",
"protein_id": "ENSP00000357086.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 434,
"cds_start": 877,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": "NM_001004310.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.877T>C",
"hgvs_p": "p.Ser293Pro",
"transcript": "ENST00000339348.9",
"protein_id": "ENSP00000340949.5",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 397,
"cds_start": 877,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.592T>C",
"hgvs_p": "p.Ser198Pro",
"transcript": "ENST00000392235.7",
"protein_id": "ENSP00000376068.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 311,
"cds_start": 592,
"cds_end": null,
"cds_length": 936,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_001426231.1",
"protein_id": "NP_001413160.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 444,
"cds_start": 907,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.898T>C",
"hgvs_p": "p.Ser300Pro",
"transcript": "NM_001426232.1",
"protein_id": "NP_001413161.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 441,
"cds_start": 898,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.862T>C",
"hgvs_p": "p.Ser288Pro",
"transcript": "NM_001426233.1",
"protein_id": "NP_001413162.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 429,
"cds_start": 862,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.898T>C",
"hgvs_p": "p.Ser300Pro",
"transcript": "NM_001284217.2",
"protein_id": "NP_001271146.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 413,
"cds_start": 898,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.898T>C",
"hgvs_p": "p.Ser300Pro",
"transcript": "ENST00000321935.10",
"protein_id": "ENSP00000320625.6",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 413,
"cds_start": 898,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_001426234.1",
"protein_id": "NP_001413163.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 407,
"cds_start": 907,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCRL6",
"gene_hgnc_id": 31910,
"dbsnp": "rs115855950",
"frequency_reference_population": 0.008336019,
"hom_count_reference_population": 886,
"allele_count_reference_population": 13452,
"gnomad_exomes_af": 0.00466139,
"gnomad_genomes_af": 0.0436374,
"gnomad_exomes_ac": 6813,
"gnomad_genomes_ac": 6639,
"gnomad_exomes_homalt": 418,
"gnomad_genomes_homalt": 468,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019312500953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.187,
"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": "ENST00000368106.4",
"gene_symbol": "FCRL6",
"hgnc_id": 31910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.877T>C",
"hgvs_p": "p.Ser293Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}