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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: 11-60175284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60175284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60175284,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000528851.6",
"consequences": [
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.549+118G>A",
"hgvs_p": null,
"transcript": "NM_022349.4",
"protein_id": "NP_071744.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": "ENST00000528851.6",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.549+118G>A",
"hgvs_p": null,
"transcript": "ENST00000528851.6",
"protein_id": "ENSP00000431901.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": "NM_022349.4",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.445+222G>A",
"hgvs_p": null,
"transcript": "ENST00000420732.6",
"protein_id": "ENSP00000392921.2",
"transcript_support_level": 1,
"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": 863,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
"hgvs_p": null,
"transcript": "NM_001330275.1",
"protein_id": "NP_001317204.1",
"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": 1106,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
"hgvs_p": null,
"transcript": "ENST00000529054.5",
"protein_id": "ENSP00000435844.1",
"transcript_support_level": 5,
"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": 1160,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
"hgvs_p": null,
"transcript": "NM_001247999.2",
"protein_id": "NP_001234928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
"hgvs_p": null,
"transcript": "ENST00000412309.6",
"protein_id": "ENSP00000403212.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1284,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
"hgvs_p": null,
"transcript": "ENST00000426738.6",
"protein_id": "ENSP00000392770.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.549+118G>A",
"hgvs_p": null,
"transcript": "NM_152852.3",
"protein_id": "NP_690591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.549+118G>A",
"hgvs_p": null,
"transcript": "ENST00000530839.6",
"protein_id": "ENSP00000436979.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1791,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.445+222G>A",
"hgvs_p": null,
"transcript": "NM_152851.2",
"protein_id": "NP_690590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
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"cds_length": 537,
"cdna_start": null,
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"cdna_length": 1562,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.253+222G>A",
"hgvs_p": null,
"transcript": "ENST00000533023.5",
"protein_id": "ENSP00000436172.1",
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"aa_start": null,
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"aa_length": 114,
"cds_start": -4,
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"cds_length": 345,
"cdna_start": null,
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"cdna_length": 780,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.247+222G>A",
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"transcript": "ENST00000533989.5",
"protein_id": "ENSP00000436133.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 112,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "MS4A6A",
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"hgvs_c": "n.*221+118G>A",
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"transcript": "ENST00000527254.5",
"protein_id": "ENSP00000435630.1",
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},
{
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],
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"gene_symbol": "MS4A6A",
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"transcript": "ENST00000531914.5",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.633+118G>A",
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"transcript": "XM_005274177.4",
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},
{
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],
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"gene_symbol": "MS4A6A",
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"hgvs_c": "c.633+118G>A",
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"transcript": "XM_024448652.2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.498+118G>A",
"hgvs_p": null,
"transcript": "XM_006718660.3",
"protein_id": "XP_006718723.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "MS4A6A",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "MS4A6A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.*349G>A",
"hgvs_p": null,
"transcript": "XM_017018125.2",
"protein_id": "XP_016873614.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 145,
"cds_start": -4,
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"cds_length": 438,
"cdna_start": null,
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"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"dbsnp": "rs662196",
"frequency_reference_population": 0.5698887,
"hom_count_reference_population": 127461,
"allele_count_reference_population": 440149,
"gnomad_exomes_af": 0.570578,
"gnomad_genomes_af": 0.567074,
"gnomad_exomes_ac": 353990,
"gnomad_genomes_ac": 86159,
"gnomad_exomes_homalt": 102731,
"gnomad_genomes_homalt": 24730,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.916,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000528851.6",
"gene_symbol": "MS4A6A",
"hgnc_id": 13375,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.549+118G>A",
"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
}