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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: 4-186258056-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186258056&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186258056,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000264690.11",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Asn587Asn",
"transcript": "NM_000892.5",
"protein_id": "NP_000883.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 638,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "ENST00000264690.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Asn587Asn",
"transcript": "ENST00000264690.11",
"protein_id": "ENSP00000264690.6",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 638,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "NM_000892.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290316",
"gene_hgnc_id": null,
"hgvs_c": "c.1902T>C",
"hgvs_p": "p.Asn634Asn",
"transcript": "ENST00000511608.5",
"protein_id": "ENSP00000426629.1",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 685,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 2317,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "n.1822T>C",
"hgvs_p": null,
"transcript": "ENST00000511406.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1621T>C",
"hgvs_p": "p.Trp541Arg",
"transcript": "NM_001440521.1",
"protein_id": "NP_001427450.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 552,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "NM_001318394.2",
"protein_id": "NP_001305323.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 514,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "ENST00000513864.2",
"protein_id": "ENSP00000424469.2",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 514,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1654T>C",
"hgvs_p": "p.Trp552Arg",
"transcript": "XM_017008182.2",
"protein_id": "XP_016863671.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 563,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1155T>C",
"hgvs_p": "p.Asn385Asn",
"transcript": "NM_001318396.2",
"protein_id": "NP_001305325.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 436,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Asn598Asn",
"transcript": "XM_011531930.3",
"protein_id": "XP_011530232.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 649,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Asn598Asn",
"transcript": "XM_017008181.2",
"protein_id": "XP_016863670.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 649,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Asn587Asn",
"transcript": "XM_047415661.1",
"protein_id": "XP_047271617.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 638,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 5617,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1155T>C",
"hgvs_p": "p.Asn385Asn",
"transcript": "XM_017008184.2",
"protein_id": "XP_016863673.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 436,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 1696,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310034",
"gene_hgnc_id": null,
"hgvs_c": "n.667A>G",
"hgvs_p": null,
"transcript": "ENST00000846704.1",
"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": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"dbsnp": "rs925453",
"frequency_reference_population": 0.67989284,
"hom_count_reference_population": 376244,
"allele_count_reference_population": 1097037,
"gnomad_exomes_af": 0.679374,
"gnomad_genomes_af": 0.684882,
"gnomad_exomes_ac": 992924,
"gnomad_genomes_ac": 104113,
"gnomad_exomes_homalt": 340347,
"gnomad_genomes_homalt": 35897,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 8.575929655307846e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.631,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000264690.11",
"gene_symbol": "KLKB1",
"hgnc_id": 6371,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Asn587Asn"
},
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000511608.5",
"gene_symbol": "ENSG00000290316",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1902T>C",
"hgvs_p": "p.Asn634Asn"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000846704.1",
"gene_symbol": "ENSG00000310034",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.667A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}