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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: 2-190482584-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190482584&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190482584,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000392328.6",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_017694.4",
"protein_id": "NP_060164.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "ENST00000392328.6",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "ENST00000392328.6",
"protein_id": "ENSP00000376141.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "NM_017694.4",
"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": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "ENST00000281416.11",
"protein_id": "ENSP00000281416.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4608,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375986.1",
"protein_id": "NP_001362915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4849,
"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": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375987.1",
"protein_id": "NP_001362916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4674,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375988.1",
"protein_id": "NP_001362917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4740,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375989.1",
"protein_id": "NP_001362918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4725,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375990.1",
"protein_id": "NP_001362919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4699,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375992.1",
"protein_id": "NP_001362921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
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"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.236-6073G>T",
"hgvs_p": null,
"transcript": "ENST00000434582.5",
"protein_id": "ENSP00000397276.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
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"cds_length": 813,
"cdna_start": null,
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"mane_select": null,
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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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"hgvs_c": "c.17-6073G>T",
"hgvs_p": null,
"transcript": "NM_001375993.1",
"protein_id": "NP_001362922.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 253,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MFSD6",
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"transcript": "NM_001375994.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MFSD6",
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"hgvs_c": "c.17-6073G>T",
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"transcript": "ENST00000444317.1",
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},
{
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],
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"gene_symbol": "MFSD6",
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"hgvs_c": "c.1631-6073G>T",
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},
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],
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"gene_symbol": "MFSD6",
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"hgvs_c": "c.1631-6073G>T",
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"transcript": "XM_047444824.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MFSD6",
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"hgvs_c": "c.1631-6073G>T",
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},
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],
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"gene_symbol": "NEMP2",
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"hgvs_c": "c.1161-13195C>A",
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},
{
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"strand": false,
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],
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "NEMP2",
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"hgvs_c": "c.1161-27013C>A",
"hgvs_p": null,
"transcript": "XM_017003100.2",
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},
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],
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"hgvs_c": "c.1130+27777C>A",
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],
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},
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],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NEMP2",
"gene_hgnc_id": 33700,
"hgvs_c": "n.1198-19820C>A",
"hgvs_p": null,
"transcript": "XR_007068185.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "MFSD6",
"gene_hgnc_id": 24711,
"dbsnp": "rs12613365",
"frequency_reference_population": 0.29831323,
"hom_count_reference_population": 7492,
"allele_count_reference_population": 45275,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.298313,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 45275,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7492,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.001,
"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": "ENST00000392328.6",
"gene_symbol": "MFSD6",
"hgnc_id": 24711,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1631-6073G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007068185.1",
"gene_symbol": "NEMP2",
"hgnc_id": 33700,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1198-19820C>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
}