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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: 1-161509809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161509809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161509809,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000271450.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.365-11G>A",
"hgvs_p": null,
"transcript": "NM_001136219.3",
"protein_id": "NP_001129691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": "ENST00000271450.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.365-11G>A",
"hgvs_p": null,
"transcript": "ENST00000271450.12",
"protein_id": "ENSP00000271450.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": "NM_001136219.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.362-11G>A",
"hgvs_p": null,
"transcript": "ENST00000367972.8",
"protein_id": "ENSP00000356949.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.362-11G>A",
"hgvs_p": null,
"transcript": "NM_021642.5",
"protein_id": "NP_067674.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.365-11G>A",
"hgvs_p": null,
"transcript": "NM_001375296.1",
"protein_id": "NP_001362225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.365-11G>A",
"hgvs_p": null,
"transcript": "ENST00000699277.1",
"protein_id": "ENSP00000514258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.362-11G>A",
"hgvs_p": null,
"transcript": "NM_001375297.1",
"protein_id": "NP_001362226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.107-11G>A",
"hgvs_p": null,
"transcript": "ENST00000699278.1",
"protein_id": "ENSP00000514259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.-53-11G>A",
"hgvs_p": null,
"transcript": "ENST00000699279.1",
"protein_id": "ENSP00000514260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.260-11G>A",
"hgvs_p": null,
"transcript": "ENST00000467525.5",
"protein_id": "ENSP00000476495.1",
"transcript_support_level": 5,
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.384-11G>A",
"hgvs_p": null,
"transcript": "ENST00000467654.1",
"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,
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"cdna_length": 914,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "FCGR2A",
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"hgvs_c": "n.58-11G>A",
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"transcript": "ENST00000471026.5",
"protein_id": null,
"transcript_support_level": 3,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.*67-11G>A",
"hgvs_p": null,
"transcript": "ENST00000483665.6",
"protein_id": "ENSP00000440148.1",
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"aa_start": null,
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"aa_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "FCGR2A",
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"hgvs_c": "n.*67-11G>A",
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"transcript": "ENST00000536731.5",
"protein_id": "ENSP00000441156.1",
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},
{
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],
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"exon_count": 8,
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"gene_symbol": "FCGR2A",
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"hgvs_c": "c.365-11G>A",
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"transcript": "XM_047449441.1",
"protein_id": "XP_047305397.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.362-11G>A",
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"transcript": "XM_017000663.3",
"protein_id": "XP_016856152.1",
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},
{
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],
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"gene_symbol": "FCGR2A",
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"hgvs_c": "c.365-11G>A",
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"transcript": "XM_017000664.2",
"protein_id": "XP_016856153.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.365-11G>A",
"hgvs_p": null,
"transcript": "XM_017000665.2",
"protein_id": "XP_016856154.1",
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
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"hgvs_c": "c.365-11G>A",
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"transcript": "XM_017000666.2",
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},
{
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
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"transcript": "XM_011509291.2",
"protein_id": "XP_011507593.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.-53-11G>A",
"hgvs_p": null,
"transcript": "XM_024454040.2",
"protein_id": "XP_024309808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
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"cds_length": 693,
"cdna_start": null,
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"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"dbsnp": "rs7529425",
"frequency_reference_population": 0.11370892,
"hom_count_reference_population": 11631,
"allele_count_reference_population": 183493,
"gnomad_exomes_af": 0.115342,
"gnomad_genomes_af": 0.0980217,
"gnomad_exomes_ac": 168579,
"gnomad_genomes_ac": 14914,
"gnomad_exomes_homalt": 10716,
"gnomad_genomes_homalt": 915,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.353,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000111998342735801,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000271450.12",
"gene_symbol": "FCGR2A",
"hgnc_id": 3616,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.365-11G>A",
"hgvs_p": null
}
],
"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
}