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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: 2-152558730-T-TGTTTTTTTTTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=152558730&ref=T&alt=TGTTTTTTTTTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 152558730,
"ref": "T",
"alt": "TGTTTTTTTTTC",
"effect": "intron_variant",
"transcript": "NM_052905.4",
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "NM_052905.4",
"protein_id": "NP_443137.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1092,
"cds_start": -4,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": "ENST00000288670.14",
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "ENST00000288670.14",
"protein_id": "ENSP00000288670.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1092,
"cds_start": -4,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": "NM_052905.4",
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "ENST00000475377.3",
"protein_id": "ENSP00000418959.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": -4,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5498,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "ENST00000850952.1",
"protein_id": "ENSP00000521036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5724,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "ENST00000850951.1",
"protein_id": "ENSP00000521035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "n.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "ENST00000850953.1",
"protein_id": "ENSP00000521037.1",
"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": 5737,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_011510530.2",
"protein_id": "XP_011508832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5651,
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_011510531.2",
"protein_id": "XP_011508833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5745,
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_011510533.4",
"protein_id": "XP_011508835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5698,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_005246263.3",
"protein_id": "XP_005246320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5724,
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_005246265.4",
"protein_id": "XP_005246322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_011510534.2",
"protein_id": "XP_011508836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": -4,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5582,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_047443111.1",
"protein_id": "XP_047299067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": -4,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5655,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_047443112.1",
"protein_id": "XP_047299068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": -4,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5608,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_011510535.3",
"protein_id": "XP_011508837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5498,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_047443113.1",
"protein_id": "XP_047299069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1036,
"cds_start": -4,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
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"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XM_047443114.1",
"protein_id": "XP_047299070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": -4,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"hgvs_c": "n.790-10_790-9insGTTTTTTTTTC",
"hgvs_p": null,
"transcript": "XR_241279.5",
"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": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FMNL2",
"gene_hgnc_id": 18267,
"dbsnp": "rs1553476567",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": -1.59,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_052905.4",
"gene_symbol": "FMNL2",
"hgnc_id": 18267,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.360-10_360-9insGTTTTTTTTTC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}