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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: 9-128515490-CTTATTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128515490&ref=CTTATTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128515490,
"ref": "CTTATTTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000309971.9",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-35_322-29delTTTTTTA",
"hgvs_p": null,
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000309971.9",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001003722.2",
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000372770.4",
"protein_id": "ENSP00000361856.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2218,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-35_322-29delTTTTTTA",
"hgvs_p": null,
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3329,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3373,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000684331.1",
"protein_id": "ENSP00000507431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000684314.1",
"protein_id": "ENSP00000507700.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 663,
"cds_start": -4,
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"cds_length": 1992,
"cdna_start": null,
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"cdna_length": 3217,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-35_322-29delTTTTTTA",
"hgvs_p": null,
"transcript": "NM_001499.2",
"protein_id": "NP_001490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2257,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 627,
"cds_start": -4,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000684139.1",
"protein_id": "ENSP00000507295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
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"cdna_length": 3060,
"mane_select": null,
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"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": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.426-38_426-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000494417.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
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"hgvs_c": "n.322-38_322-32delTTATTTT",
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"transcript": "ENST00000682831.1",
"protein_id": "ENSP00000508410.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.322-38_322-32delTTATTTT",
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"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*321-38_*321-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
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"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.322-38_322-32delTTATTTT",
"hgvs_p": null,
"transcript": "ENST00000683905.1",
"protein_id": "ENSP00000506960.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.331-35_331-29delTTTTTTA",
"hgvs_p": null,
"transcript": "XM_011518549.2",
"protein_id": "XP_011516851.1",
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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": 18,
"intron_rank": 3,
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"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.331-35_331-29delTTTTTTA",
"hgvs_p": null,
"transcript": "XM_011518550.2",
"protein_id": "XP_011516852.1",
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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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.331-35_331-29delTTTTTTA",
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"transcript": "XM_006717060.4",
"protein_id": "XP_006717123.1",
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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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.331-35_331-29delTTTTTTA",
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"transcript": "XM_024447519.2",
"protein_id": "XP_024303287.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.331-35_331-29delTTTTTTA",
"hgvs_p": null,
"transcript": "XM_047423234.1",
"protein_id": "XP_047279190.1",
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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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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"dbsnp": "rs372645952",
"frequency_reference_population": 0.24593827,
"hom_count_reference_population": 37221,
"allele_count_reference_population": 285948,
"gnomad_exomes_af": 0.24244,
"gnomad_genomes_af": 0.269269,
"gnomad_exomes_ac": 245122,
"gnomad_genomes_ac": 40826,
"gnomad_exomes_homalt": 31161,
"gnomad_genomes_homalt": 6060,
"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": 1.451,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000309971.9",
"gene_symbol": "GLE1",
"hgnc_id": 4315,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.322-38_322-32delTTATTTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}