← Back to variant description
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: 5-41159152-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=41159152&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 41159152,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000337836.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly",
"transcript": "NM_000065.5",
"protein_id": "NP_000056.2",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 934,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": "ENST00000337836.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly",
"transcript": "ENST00000337836.10",
"protein_id": "ENSP00000338861.5",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 934,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": "NM_000065.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly",
"transcript": "ENST00000263413.7",
"protein_id": "ENSP00000263413.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 934,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly",
"transcript": "NM_001115131.4",
"protein_id": "NP_001108603.2",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 934,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1870C>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "XM_011514114.4",
"protein_id": "XP_011512416.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 971,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1870C>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "XM_006714496.5",
"protein_id": "XP_006714559.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 962,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_011514115.4",
"protein_id": "XP_011512417.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_011514116.4",
"protein_id": "XP_011512418.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_011514117.4",
"protein_id": "XP_011512419.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_011514118.4",
"protein_id": "XP_011512420.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_017009818.3",
"protein_id": "XP_016865307.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_047417687.1",
"protein_id": "XP_047273643.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "XM_047417688.1",
"protein_id": "XP_047273644.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 962,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1813C>G",
"hgvs_p": "p.Arg605Gly",
"transcript": "XM_011514119.4",
"protein_id": "XP_011512421.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 952,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"hgvs_c": "c.1426C>G",
"hgvs_p": "p.Arg476Gly",
"transcript": "XM_047417689.1",
"protein_id": "XP_047273645.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 823,
"cds_start": 1426,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307984",
"gene_hgnc_id": null,
"hgvs_c": "n.55-2161G>C",
"hgvs_p": null,
"transcript": "ENST00000830208.1",
"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": 160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LOC105374739",
"gene_hgnc_id": null,
"hgvs_c": "n.887-2161G>C",
"hgvs_p": null,
"transcript": "XR_001742650.2",
"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": 990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105374739",
"gene_hgnc_id": null,
"hgvs_c": "n.297-2161G>C",
"hgvs_p": null,
"transcript": "XR_001742651.2",
"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": 400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C6",
"gene_hgnc_id": 1339,
"dbsnp": "rs142881576",
"frequency_reference_population": 0.0000013684777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136848,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19315746426582336,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.0708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.456,
"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": "ENST00000337836.10",
"gene_symbol": "C6",
"hgnc_id": 1339,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000830208.1",
"gene_symbol": "ENSG00000307984",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.55-2161G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001742650.2",
"gene_symbol": "LOC105374739",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.887-2161G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}