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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: 10-58813993-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=58813993&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 58813993,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263103.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.1418G>T",
"hgvs_p": "p.Arg473Leu",
"transcript": "ENST00000263103.1",
"protein_id": "ENSP00000263103.1",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 506,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2533+7G>T",
"hgvs_p": null,
"transcript": "NM_001080512.3",
"protein_id": "NP_001073981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373886.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080512.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2533+7G>T",
"hgvs_p": null,
"transcript": "ENST00000373886.8",
"protein_id": "ENSP00000362993.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080512.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373886.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2627G>T",
"hgvs_p": "p.Arg876Leu",
"transcript": "XM_024448174.1",
"protein_id": "XP_024303942.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 909,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2605+7G>T",
"hgvs_p": null,
"transcript": "XM_011540185.3",
"protein_id": "XP_011538487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": null,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540185.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2533+7G>T",
"hgvs_p": null,
"transcript": "XM_047425777.1",
"protein_id": "XP_047281733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2401+7G>T",
"hgvs_p": null,
"transcript": "XM_017016677.2",
"protein_id": "XP_016872166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016677.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2401+7G>T",
"hgvs_p": null,
"transcript": "XM_047425778.1",
"protein_id": "XP_047281734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2392+7G>T",
"hgvs_p": null,
"transcript": "XM_005270169.6",
"protein_id": "XP_005270226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": null,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270169.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2389+7G>T",
"hgvs_p": null,
"transcript": "XM_017016678.2",
"protein_id": "XP_016872167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016678.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2293+7G>T",
"hgvs_p": null,
"transcript": "XM_024448175.2",
"protein_id": "XP_024303943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448175.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2293+7G>T",
"hgvs_p": null,
"transcript": "XM_047425779.1",
"protein_id": "XP_047281735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2293+7G>T",
"hgvs_p": null,
"transcript": "XM_047425780.1",
"protein_id": "XP_047281736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2293+7G>T",
"hgvs_p": null,
"transcript": "XM_047425781.1",
"protein_id": "XP_047281737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"hgvs_c": "c.2149+7G>T",
"hgvs_p": null,
"transcript": "XM_011540191.3",
"protein_id": "XP_011538493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": null,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540191.3"
}
],
"gene_symbol": "BICC1",
"gene_hgnc_id": 19351,
"dbsnp": "rs9416746",
"frequency_reference_population": 0.74222714,
"hom_count_reference_population": 445413,
"allele_count_reference_population": 1197392,
"gnomad_exomes_af": 0.740562,
"gnomad_genomes_af": 0.758218,
"gnomad_exomes_ac": 1082058,
"gnomad_genomes_ac": 115334,
"gnomad_exomes_homalt": 401510,
"gnomad_genomes_homalt": 43903,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.496093298366759e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.02199999988079071,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000474057688968748,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263103.1",
"gene_symbol": "BICC1",
"hgnc_id": 19351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1418G>T",
"hgvs_p": "p.Arg473Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}