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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: 8-11557983-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11557983&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11557983,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000259089.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "NM_001715.3",
"protein_id": "NP_001706.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 505,
"cds_start": 974,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "ENST00000259089.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "ENST00000259089.9",
"protein_id": "ENSP00000259089.4",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 505,
"cds_start": 974,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "NM_001715.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.761A>C",
"hgvs_p": "p.Lys254Thr",
"transcript": "NM_001330465.2",
"protein_id": "NP_001317394.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 434,
"cds_start": 761,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Lys351Thr",
"transcript": "XM_011543824.2",
"protein_id": "XP_011542126.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 531,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Lys351Thr",
"transcript": "XM_011543825.4",
"protein_id": "XP_011542127.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 531,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Lys351Thr",
"transcript": "XM_047422081.1",
"protein_id": "XP_047278037.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 531,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "XM_047422082.1",
"protein_id": "XP_047278038.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 505,
"cds_start": 974,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "XM_047422083.1",
"protein_id": "XP_047278039.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 505,
"cds_start": 974,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "c.839A>C",
"hgvs_p": "p.Lys280Thr",
"transcript": "XM_011543827.2",
"protein_id": "XP_011542129.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 460,
"cds_start": 839,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2169,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269954",
"gene_hgnc_id": 58190,
"hgvs_c": "n.40T>G",
"hgvs_p": null,
"transcript": "ENST00000528629.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "n.1125A>C",
"hgvs_p": null,
"transcript": "ENST00000645242.1",
"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": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"hgvs_c": "n.1066A>C",
"hgvs_p": null,
"transcript": "ENST00000696154.2",
"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": 2117,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK-AS1",
"gene_hgnc_id": 58190,
"hgvs_c": "n.283T>G",
"hgvs_p": null,
"transcript": "XR_948955.3",
"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": 2286,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLK-AS1",
"gene_hgnc_id": 58190,
"hgvs_c": "n.283T>G",
"hgvs_p": null,
"transcript": "XR_948956.3",
"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": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269954",
"gene_hgnc_id": 58190,
"hgvs_c": "n.242-5T>G",
"hgvs_p": null,
"transcript": "ENST00000602626.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BLK",
"gene_hgnc_id": 1057,
"dbsnp": "rs77401687",
"frequency_reference_population": 0.0017812115,
"hom_count_reference_population": 11,
"allele_count_reference_population": 2875,
"gnomad_exomes_af": 0.00184366,
"gnomad_genomes_af": 0.00118183,
"gnomad_exomes_ac": 2695,
"gnomad_genomes_ac": 180,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14501407742500305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.105,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 7,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000259089.9",
"gene_symbol": "BLK",
"hgnc_id": 1057,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr"
},
{
"score": -6,
"benign_score": 7,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000602626.2",
"gene_symbol": "ENSG00000269954",
"hgnc_id": 58190,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.242-5T>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 7,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XR_948955.3",
"gene_symbol": "BLK-AS1",
"hgnc_id": 58190,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.283T>G",
"hgvs_p": null
}
],
"clinvar_disease": "BLK-related disorder,Maturity-onset diabetes of the young type 11,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:2",
"phenotype_combined": "Maturity-onset diabetes of the young type 11|not specified|not provided|BLK-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}