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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: 1-161629989-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161629989&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161629989,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000650385.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001244753.2",
"protein_id": "NP_001231682.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 233,
"cds_start": 108,
"cds_end": null,
"cds_length": 702,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": "ENST00000650385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000650385.1",
"protein_id": "ENSP00000497461.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 233,
"cds_start": 108,
"cds_end": null,
"cds_length": 702,
"cdna_start": 190,
"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+1066C>T",
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_000570.5",
"protein_id": "NP_000561.3",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 233,
"cds_start": 108,
"cds_end": null,
"cds_length": 702,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000367964.6",
"protein_id": "ENSP00000356941.2",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 233,
"cds_start": 108,
"cds_end": null,
"cds_length": 702,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ser35Ser",
"transcript": "NM_001271035.2",
"protein_id": "NP_001257964.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 232,
"cds_start": 105,
"cds_end": null,
"cds_length": 699,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ser35Ser",
"transcript": "ENST00000421702.4",
"protein_id": "ENSP00000394204.3",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 232,
"cds_start": 105,
"cds_end": null,
"cds_length": 699,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Ser19Ser",
"transcript": "NM_001271036.2",
"protein_id": "NP_001257965.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 216,
"cds_start": 57,
"cds_end": null,
"cds_length": 651,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.57C>T",
"hgvs_p": "p.Ser19Ser",
"transcript": "NM_001271037.2",
"protein_id": "NP_001257966.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 130,
"cds_start": 57,
"cds_end": null,
"cds_length": 393,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.57C>T",
"hgvs_p": "p.Ser19Ser",
"transcript": "ENST00000534776.1",
"protein_id": "ENSP00000437084.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 103,
"cds_start": 57,
"cds_end": null,
"cds_length": 314,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 584,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "n.484C>T",
"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": 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+379C>T",
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"hgvs_c": "n.128-103C>T",
"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
}
],
"gene_symbol": "FCGR3B",
"gene_hgnc_id": 3620,
"dbsnp": "rs200688856",
"frequency_reference_population": 0.00002787391,
"hom_count_reference_population": 10,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000262942,
"gnomad_genomes_af": 0.0000461894,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04500000178813934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.011,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650385.1",
"gene_symbol": "FCGR3B",
"hgnc_id": 3620,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000699402.1",
"gene_symbol": "ENSG00000289768",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.40+1066C>T",
"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
}