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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: 19-10688228-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10688228&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10688228,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000588657.6",
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2435-322G>A",
"hgvs_p": null,
"transcript": "NM_017620.3",
"protein_id": "NP_060090.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6017,
"mane_select": "ENST00000588657.6",
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2435-322G>A",
"hgvs_p": null,
"transcript": "ENST00000588657.6",
"protein_id": "ENSP00000468181.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6017,
"mane_select": "NM_017620.3",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "n.510+114G>A",
"hgvs_p": null,
"transcript": "ENST00000586544.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3859,
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2435-322G>A",
"hgvs_p": null,
"transcript": "NM_001394808.1",
"protein_id": "NP_001381737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6175,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2435-322G>A",
"hgvs_p": null,
"transcript": "NM_001394809.1",
"protein_id": "NP_001381738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5958,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2435-322G>A",
"hgvs_p": null,
"transcript": "NM_001394810.1",
"protein_id": "NP_001381739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5982,
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2423-322G>A",
"hgvs_p": null,
"transcript": "NM_001394811.1",
"protein_id": "NP_001381740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": -4,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6163,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2423-322G>A",
"hgvs_p": null,
"transcript": "NM_001394812.1",
"protein_id": "NP_001381741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": -4,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5946,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2423-322G>A",
"hgvs_p": null,
"transcript": "NM_012218.4",
"protein_id": "NP_036350.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": -4,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6005,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2423-322G>A",
"hgvs_p": null,
"transcript": "ENST00000590261.5",
"protein_id": "ENSP00000468156.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": -4,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3219,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2434+520G>A",
"hgvs_p": null,
"transcript": "NM_001394813.1",
"protein_id": "NP_001381742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 855,
"cds_start": -4,
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"cds_length": 2568,
"cdna_start": null,
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"cdna_length": 5888,
"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,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2422+520G>A",
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"transcript": "NM_001394814.1",
"protein_id": "NP_001381743.1",
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.2072-322G>A",
"hgvs_p": null,
"transcript": "NM_001394815.1",
"protein_id": "NP_001381744.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": 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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ILF3",
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"hgvs_c": "c.2072-322G>A",
"hgvs_p": null,
"transcript": "NM_001394816.1",
"protein_id": "NP_001381745.1",
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},
{
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"strand": true,
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],
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"intron_rank": 17,
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"gene_symbol": "ILF3",
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"hgvs_c": "c.2060-322G>A",
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"transcript": "NM_001394817.1",
"protein_id": "NP_001381746.1",
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ILF3",
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"hgvs_c": "c.89-322G>A",
"hgvs_p": null,
"transcript": "ENST00000590869.1",
"protein_id": "ENSP00000466235.1",
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},
{
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],
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"gene_symbol": "ILF3",
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"hgvs_c": "n.3433-322G>A",
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"transcript": "ENST00000587928.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "n.1782-322G>A",
"hgvs_p": null,
"transcript": "ENST00000591649.5",
"protein_id": null,
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"aa_start": null,
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},
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 19,
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"gene_symbol": "ILF3",
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"hgvs_c": "c.2435-322G>A",
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},
{
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],
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"gene_symbol": "ILF3",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ILF3",
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"hgvs_c": "c.1640-322G>A",
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"transcript": "XM_047438780.1",
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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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"hgvs_c": "c.1430-322G>A",
"hgvs_p": null,
"transcript": "XM_047438781.1",
"protein_id": "XP_047294737.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ILF3",
"gene_hgnc_id": 6038,
"dbsnp": "rs2569507",
"frequency_reference_population": 0.44934464,
"hom_count_reference_population": 29225,
"allele_count_reference_population": 123896,
"gnomad_exomes_af": 0.461883,
"gnomad_genomes_af": 0.43913,
"gnomad_exomes_ac": 57171,
"gnomad_genomes_ac": 66725,
"gnomad_exomes_homalt": 13796,
"gnomad_genomes_homalt": 15429,
"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": -3.214,
"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": "ENST00000588657.6",
"gene_symbol": "ILF3",
"hgnc_id": 6038,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2435-322G>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
}