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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: 10-100205167-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100205167&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100205167,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000370397.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "NM_001278.5",
"protein_id": "NP_001269.3",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 745,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": "ENST00000370397.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "ENST00000370397.8",
"protein_id": "ENSP00000359424.6",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 745,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": "NM_001278.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "NM_001441062.1",
"protein_id": "NP_001427991.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 762,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "NM_001441063.1",
"protein_id": "NP_001427992.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 746,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "NM_001320928.2",
"protein_id": "NP_001307857.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 719,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Gln386*",
"transcript": "NM_001441064.1",
"protein_id": "NP_001427993.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 709,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Gln328*",
"transcript": "NM_001441065.1",
"protein_id": "NP_001427994.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 651,
"cds_start": 982,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Gln213*",
"transcript": "NM_001441066.1",
"protein_id": "NP_001427995.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 536,
"cds_start": 637,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "XM_047424542.1",
"protein_id": "XP_047280498.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 719,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"transcript": "XM_017015612.2",
"protein_id": "XP_016871101.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 598,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 6429,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199796.1",
"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": 3835,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1225C>T",
"hgvs_p": null,
"transcript": "NR_199797.1",
"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": 3497,
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199798.1",
"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": 4003,
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199799.1",
"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": 3538,
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1323C>T",
"hgvs_p": null,
"transcript": "NR_199800.1",
"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": 3595,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199801.1",
"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": 3768,
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199802.1",
"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": 3503,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"hgvs_c": "n.1328C>T",
"hgvs_p": null,
"transcript": "NR_199803.1",
"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": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHUK",
"gene_hgnc_id": 1974,
"dbsnp": "rs267606736",
"frequency_reference_population": 0.000008055461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000684166,
"gnomad_genomes_af": 0.0000197138,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"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": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.272,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370397.8",
"gene_symbol": "CHUK",
"hgnc_id": 1974,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*"
}
],
"clinvar_disease": "Cocoon syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cocoon syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}