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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: 1-161626224-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161626224&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161626224,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000650385.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_001244753.2",
"protein_id": "NP_001231682.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 498,
"cds_end": null,
"cds_length": 702,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": "ENST00000650385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000650385.1",
"protein_id": "ENSP00000497461.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 498,
"cds_end": null,
"cds_length": 702,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": "NM_001244753.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.40+4831T>C",
"hgvs_p": null,
"transcript": "ENST00000699402.1",
"protein_id": "ENSP00000514363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_000570.5",
"protein_id": "NP_000561.3",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 498,
"cds_end": null,
"cds_length": 702,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000367964.6",
"protein_id": "ENSP00000356941.2",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 498,
"cds_end": null,
"cds_length": 702,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Asp165Asp",
"transcript": "NM_001271035.2",
"protein_id": "NP_001257964.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 232,
"cds_start": 495,
"cds_end": null,
"cds_length": 699,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Asp165Asp",
"transcript": "ENST00000421702.4",
"protein_id": "ENSP00000394204.3",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 232,
"cds_start": 495,
"cds_end": null,
"cds_length": 699,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "NM_001271036.2",
"protein_id": "NP_001257965.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 216,
"cds_start": 447,
"cds_end": null,
"cds_length": 651,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "n.874T>C",
"hgvs_p": null,
"transcript": "ENST00000533780.2",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "n.415T>C",
"hgvs_p": null,
"transcript": "ENST00000699523.1",
"protein_id": null,
"transcript_support_level": null,
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.269-1585T>C",
"hgvs_p": null,
"transcript": "NM_001271037.2",
"protein_id": "NP_001257966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.61+4144T>C",
"hgvs_p": null,
"transcript": "ENST00000699403.1",
"protein_id": "ENSP00000514364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 596,
"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": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.*133T>C",
"hgvs_p": null,
"transcript": "ENST00000534776.1",
"protein_id": "ENSP00000437084.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"dbsnp": "rs71632957",
"frequency_reference_population": 0.0038428952,
"hom_count_reference_population": 497,
"allele_count_reference_population": 5987,
"gnomad_exomes_af": 0.00235039,
"gnomad_genomes_af": 0.0180654,
"gnomad_exomes_ac": 3314,
"gnomad_genomes_ac": 2673,
"gnomad_exomes_homalt": 281,
"gnomad_genomes_homalt": 216,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.945,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000650385.1",
"gene_symbol": "FCGR3B",
"hgnc_id": 3620,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000699402.1",
"gene_symbol": "ENSG00000289768",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.40+4831T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}