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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: 4-186276275-AACATCG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186276275&ref=AACATCG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186276275,
"ref": "AACATCG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000403665.7",
"consequences": [
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "NM_000128.4",
"protein_id": "NP_000119.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 625,
"cds_start": 644,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000403665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "ENST00000403665.7",
"protein_id": "ENSP00000384957.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 625,
"cds_start": 644,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_000128.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "NM_001440590.1",
"protein_id": "NP_001427519.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 609,
"cds_start": 644,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "NM_001440593.1",
"protein_id": "NP_001427522.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 593,
"cds_start": 644,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "NM_001440596.1",
"protein_id": "NP_001427525.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 577,
"cds_start": 644,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.89_94delTCGACA",
"hgvs_p": "p.Ile30_Asp31del",
"transcript": "ENST00000452239.1",
"protein_id": "ENSP00000397401.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 209,
"cds_start": 89,
"cds_end": null,
"cds_length": 630,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_005262821.5",
"protein_id": "XP_005262878.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 626,
"cds_start": 644,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_006714137.4",
"protein_id": "XP_006714200.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 610,
"cds_start": 644,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_005262822.5",
"protein_id": "XP_005262879.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 594,
"cds_start": 644,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_017007884.3",
"protein_id": "XP_016863373.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 395,
"cds_start": 644,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_017007885.3",
"protein_id": "XP_016863374.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 395,
"cds_start": 644,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IDS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"transcript": "XM_017007886.3",
"protein_id": "XP_016863375.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 394,
"cds_start": 644,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1359,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.485+2004_485+2009delTCGACA",
"hgvs_p": null,
"transcript": "NM_001440605.1",
"protein_id": "NP_001427534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.485+2004_485+2009delTCGACA",
"hgvs_p": null,
"transcript": "NM_001440606.1",
"protein_id": "NP_001427535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": -4,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3764,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.485+2004_485+2009delTCGACA",
"hgvs_p": null,
"transcript": "NM_001440607.1",
"protein_id": "NP_001427536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3716,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.485+2004_485+2009delTCGACA",
"hgvs_p": null,
"transcript": "NM_001440608.1",
"protein_id": "NP_001427537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3668,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.485+2004_485+2009delTCGACA",
"hgvs_p": null,
"transcript": "XM_005262823.5",
"protein_id": "XP_005262880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"dbsnp": "rs1459304265",
"frequency_reference_population": 0.0000041042704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410427,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.853,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM4,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM4",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000403665.7",
"gene_symbol": "F11",
"hgnc_id": 3529,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del"
}
],
"clinvar_disease": "Hereditary factor XI deficiency disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hereditary factor XI deficiency disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}