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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: 1-161726936-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161726936&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FCRLB",
"hgnc_id": 26431,
"hgvs_c": "c.808G>T",
"hgvs_p": "p.Ala270Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001002901.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1212,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20007899403572083,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 426,
"aa_ref": "A",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1281,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001002901.4",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.808G>T",
"hgvs_p": "p.Ala270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367948.7",
"protein_coding": true,
"protein_id": "NP_001002901.1",
"strand": true,
"transcript": "NM_001002901.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 426,
"aa_ref": "A",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1281,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367948.7",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.808G>T",
"hgvs_p": "p.Ala270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001002901.4",
"protein_coding": true,
"protein_id": "ENSP00000356925.2",
"strand": true,
"transcript": "ENST00000367948.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 718,
"cds_end": null,
"cds_length": 828,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336830.9",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338598.5",
"strand": true,
"transcript": "ENST00000336830.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 268,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 697,
"cds_end": null,
"cds_length": 807,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367944.3",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Gly228Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356921.3",
"strand": true,
"transcript": "ENST00000367944.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 677,
"cds_end": null,
"cds_length": 957,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367946.7",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Arg221Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356923.3",
"strand": true,
"transcript": "ENST00000367946.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 656,
"cds_end": null,
"cds_length": 936,
"cds_start": 642,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367945.5",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.642G>T",
"hgvs_p": "p.Arg214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356922.1",
"strand": true,
"transcript": "ENST00000367945.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000495397.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "n.1036G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495397.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 426,
"aa_ref": "A",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1281,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320241.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.808G>T",
"hgvs_p": "p.Ala270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307170.1",
"strand": true,
"transcript": "NM_001320241.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 724,
"cds_end": null,
"cds_length": 828,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288831.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275760.1",
"strand": true,
"transcript": "NM_001288831.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 268,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 703,
"cds_end": null,
"cds_length": 807,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001288832.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Gly228Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275761.1",
"strand": true,
"transcript": "NM_001288832.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 683,
"cds_end": null,
"cds_length": 957,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288829.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Arg221Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275758.1",
"strand": true,
"transcript": "NM_001288829.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 662,
"cds_end": null,
"cds_length": 936,
"cds_start": 642,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001288830.1",
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"hgvs_c": "c.642G>T",
"hgvs_p": "p.Arg214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275759.1",
"strand": true,
"transcript": "NM_001288830.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1683597975",
"effect": "missense_variant",
"frequency_reference_population": 7.1111515e-7,
"gene_hgnc_id": 26431,
"gene_symbol": "FCRLB",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.11115e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.806,
"pos": 161726936,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.274,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001002901.4"
}
]
}