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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: 4-76021790-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76021790&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76021790,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000306602.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CXCL10",
"gene_hgnc_id": 10637,
"hgvs_c": "c.*140G>T",
"hgvs_p": null,
"transcript": "NM_001565.4",
"protein_id": "NP_001556.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": "ENST00000306602.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CXCL10",
"gene_hgnc_id": 10637,
"hgvs_c": "c.*140G>T",
"hgvs_p": null,
"transcript": "ENST00000306602.3",
"protein_id": "ENSP00000305651.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": "NM_001565.4",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "ENST00000341029.9",
"protein_id": "ENSP00000343843.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1517,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-125+10470C>A",
"hgvs_p": null,
"transcript": "ENST00000513122.5",
"protein_id": "ENSP00000422287.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 801,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-44+10470C>A",
"hgvs_p": null,
"transcript": "ENST00000513353.5",
"protein_id": "ENSP00000421345.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": -4,
"cds_end": null,
"cds_length": 322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CXCL10",
"gene_hgnc_id": 10637,
"hgvs_c": "n.376G>T",
"hgvs_p": null,
"transcript": "NR_168520.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1048,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "NM_001130017.3",
"protein_id": "NP_001123489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1511,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "NM_001377177.1",
"protein_id": "NP_001364106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1448,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "NM_001377181.1",
"protein_id": "NP_001364110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1388,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "NM_001377183.1",
"protein_id": "NP_001364112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1355,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-10+9547C>A",
"hgvs_p": null,
"transcript": "ENST00000504914.5",
"protein_id": "ENSP00000421431.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
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"cds_length": 389,
"cdna_start": null,
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"cdna_length": 545,
"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,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "n.121+10470C>A",
"hgvs_p": null,
"transcript": "ENST00000510669.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-44+10470C>A",
"hgvs_p": null,
"transcript": "XM_017008206.3",
"protein_id": "XP_016863695.1",
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"aa_start": null,
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"aa_length": 457,
"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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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ART3",
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"hgvs_c": "c.-10+10470C>A",
"hgvs_p": null,
"transcript": "XM_024454051.2",
"protein_id": "XP_024309819.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ART3",
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"transcript": "XM_024454052.2",
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"feature": null
},
{
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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": 13,
"intron_rank": 1,
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"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-136+10470C>A",
"hgvs_p": null,
"transcript": "XM_024454053.2",
"protein_id": "XP_024309821.1",
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},
{
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],
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"gene_symbol": "ART3",
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"hgvs_c": "c.-214+10470C>A",
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"transcript": "XM_047415695.1",
"protein_id": "XP_047271651.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-214+10470C>A",
"hgvs_p": null,
"transcript": "XM_047415696.1",
"protein_id": "XP_047271652.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-225+10470C>A",
"hgvs_p": null,
"transcript": "XM_047415697.1",
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},
{
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],
"exon_rank": null,
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "ART3",
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"hgvs_c": "c.-10+10470C>A",
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"transcript": "XM_024454063.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-214+10470C>A",
"hgvs_p": null,
"transcript": "XM_047415699.1",
"protein_id": "XP_047271655.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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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,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.-225+10470C>A",
"hgvs_p": null,
"transcript": "XM_047415700.1",
"protein_id": "XP_047271656.1",
"transcript_support_level": null,
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"cdna_start": null,
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"cdna_length": 1693,
"mane_select": null,
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"feature": null
}
],
"gene_symbol": "CXCL10",
"gene_hgnc_id": 10637,
"dbsnp": "rs3921",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.562,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000306602.3",
"gene_symbol": "CXCL10",
"hgnc_id": 10637,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*140G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001130017.3",
"gene_symbol": "ART3",
"hgnc_id": 725,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-10+10470C>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
}