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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: 19-10554168-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10554168&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10554168,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_023008.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Gln632Arg",
"transcript": "NM_023008.5",
"protein_id": "NP_075384.4",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 703,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "ENST00000312962.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023008.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Gln632Arg",
"transcript": "ENST00000312962.12",
"protein_id": "ENSP00000320917.9",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 703,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "NM_023008.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312962.12"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1937A>G",
"hgvs_p": "p.Gln646Arg",
"transcript": "ENST00000906782.1",
"protein_id": "ENSP00000576841.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 717,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906782.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1919A>G",
"hgvs_p": "p.Gln640Arg",
"transcript": "ENST00000958127.1",
"protein_id": "ENSP00000628186.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 711,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958127.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Gln638Arg",
"transcript": "ENST00000652042.1",
"protein_id": "ENSP00000498803.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 709,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652042.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Gln633Arg",
"transcript": "ENST00000923422.1",
"protein_id": "ENSP00000593481.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 704,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923422.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Gln633Arg",
"transcript": "ENST00000958128.1",
"protein_id": "ENSP00000628187.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 704,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958128.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1901A>G",
"hgvs_p": "p.Gln634Arg",
"transcript": "XM_047439232.1",
"protein_id": "XP_047295188.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 705,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439232.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Gln520Arg",
"transcript": "XM_011528190.3",
"protein_id": "XP_011526492.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 591,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528190.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "n.1953A>G",
"hgvs_p": null,
"transcript": "ENST00000478863.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478863.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "n.2661A>G",
"hgvs_p": null,
"transcript": "ENST00000536689.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000536689.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "n.1178A>G",
"hgvs_p": null,
"transcript": "ENST00000537363.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000537363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "n.2031A>G",
"hgvs_p": null,
"transcript": "ENST00000612875.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000612875.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"hgvs_c": "n.122-561A>G",
"hgvs_p": null,
"transcript": "ENST00000618579.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000618579.1"
}
],
"gene_symbol": "KRI1",
"gene_hgnc_id": 25769,
"dbsnp": "rs766054808",
"frequency_reference_population": 0.000021892556,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000218926,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09513738751411438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0624,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023008.5",
"gene_symbol": "KRI1",
"hgnc_id": 25769,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Gln632Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}