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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: 1-161673197-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161673197&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FCGR2B",
"hgnc_id": 3618,
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_004001.5",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000234211",
"hgnc_id": null,
"hgvs_c": "n.198-914T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000453111.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 3160,
"alphamissense_prediction": null,
"alphamissense_score": 0.1054,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005463212728500366,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 310,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 713,
"cds_end": null,
"cds_length": 933,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394477.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358671.10",
"protein_coding": true,
"protein_id": "NP_001381406.1",
"strand": true,
"transcript": "NM_001394477.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 310,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 713,
"cds_end": null,
"cds_length": 933,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358671.10",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394477.1",
"protein_coding": true,
"protein_id": "ENSP00000351497.5",
"strand": true,
"transcript": "ENST00000358671.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Y",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 674,
"cds_end": null,
"cds_length": 912,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000367961.8",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.593A>T",
"hgvs_p": "p.Tyr198Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356938.4",
"strand": true,
"transcript": "ENST00000367961.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 291,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 709,
"cds_end": null,
"cds_length": 876,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000236937.13",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000236937.9",
"strand": true,
"transcript": "ENST00000236937.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000480308.5",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "n.664A>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": "ENST00000480308.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485778.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "n.1982A>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": "ENST00000485778.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 310,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 705,
"cds_end": null,
"cds_length": 933,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004001.5",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003992.3",
"strand": true,
"transcript": "NM_004001.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 309,
"aa_ref": "Y",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 702,
"cds_end": null,
"cds_length": 930,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001002275.3",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Tyr204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002275.1",
"strand": true,
"transcript": "NM_001002275.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 309,
"aa_ref": "Y",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 710,
"cds_end": null,
"cds_length": 930,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880974.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Tyr204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551033.1",
"strand": true,
"transcript": "ENST00000880974.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Y",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 684,
"cds_end": null,
"cds_length": 912,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001190828.2",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.593A>T",
"hgvs_p": "p.Tyr198Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177757.1",
"strand": true,
"transcript": "NM_001190828.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 302,
"aa_ref": "Y",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 681,
"cds_end": null,
"cds_length": 909,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386000.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Tyr197Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372929.1",
"strand": true,
"transcript": "NM_001386000.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 291,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 705,
"cds_end": null,
"cds_length": 876,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001002274.3",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002274.1",
"strand": true,
"transcript": "NM_001002274.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 290,
"aa_ref": "Y",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 702,
"cds_end": null,
"cds_length": 873,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001002273.3",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Tyr204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002273.1",
"strand": true,
"transcript": "NM_001002273.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 290,
"aa_ref": "Y",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 776,
"cds_end": null,
"cds_length": 873,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880972.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Tyr204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551031.1",
"strand": true,
"transcript": "ENST00000880972.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 290,
"aa_ref": "Y",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 916,
"cds_end": null,
"cds_length": 873,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880973.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Tyr204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551032.1",
"strand": true,
"transcript": "ENST00000880973.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 284,
"aa_ref": "Y",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 684,
"cds_end": null,
"cds_length": 855,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386001.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.593A>T",
"hgvs_p": "p.Tyr198Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372930.1",
"strand": true,
"transcript": "NM_001386001.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 283,
"aa_ref": "Y",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 681,
"cds_end": null,
"cds_length": 852,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386002.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Tyr197Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372931.1",
"strand": true,
"transcript": "NM_001386002.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 283,
"aa_ref": "Y",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": 689,
"cds_end": null,
"cds_length": 852,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880975.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Tyr197Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551034.1",
"strand": true,
"transcript": "ENST00000880975.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 273,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 705,
"cds_end": null,
"cds_length": 822,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386003.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Tyr205Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372932.1",
"strand": true,
"transcript": "NM_001386003.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 265,
"aa_ref": "Y",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 681,
"cds_end": null,
"cds_length": 798,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386004.1",
"gene_hgnc_id": 3618,
"gene_symbol": "FCGR2B",
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Tyr197Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372933.1",
"strand": true,
"transcript": "NM_001386004.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 254,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
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}