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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: 9-132725738-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132725738&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132725738,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000298545.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Glu464Gln",
"transcript": "NM_152572.3",
"protein_id": "NP_689785.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 479,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "ENST00000298545.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Glu464Gln",
"transcript": "ENST00000298545.4",
"protein_id": "ENSP00000298545.3",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 479,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "NM_152572.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Glu435Gln",
"transcript": "NM_001371771.1",
"protein_id": "NP_001358700.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 450,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1255G>C",
"hgvs_p": "p.Glu419Gln",
"transcript": "NM_001371772.1",
"protein_id": "NP_001358701.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 434,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Glu292Gln",
"transcript": "NM_001317959.2",
"protein_id": "NP_001304888.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 307,
"cds_start": 874,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Glu260Gln",
"transcript": "NM_001317958.2",
"protein_id": "NP_001304887.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 275,
"cds_start": 778,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Glu260Gln",
"transcript": "NM_001371773.1",
"protein_id": "NP_001358702.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 275,
"cds_start": 778,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Glu260Gln",
"transcript": "NM_001371774.1",
"protein_id": "NP_001358703.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 275,
"cds_start": 778,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "XM_005272169.3",
"protein_id": "XP_005272226.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1174G>C",
"hgvs_p": "p.Glu392Gln",
"transcript": "XM_006716965.3",
"protein_id": "XP_006717028.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 407,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1168G>C",
"hgvs_p": "p.Glu390Gln",
"transcript": "XM_011518278.3",
"protein_id": "XP_011516580.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 405,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Glu292Gln",
"transcript": "XM_017014308.2",
"protein_id": "XP_016869797.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 307,
"cds_start": 874,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1163,
"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": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.333G>C",
"hgvs_p": null,
"transcript": "ENST00000467161.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 488,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.1827G>C",
"hgvs_p": null,
"transcript": "ENST00000476719.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1987,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.2305G>C",
"hgvs_p": null,
"transcript": "ENST00000477396.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"dbsnp": "rs148764112",
"frequency_reference_population": 0.00007230713,
"hom_count_reference_population": 1,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000340706,
"gnomad_genomes_af": 0.000433503,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 66,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13011714816093445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7188,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.646,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000298545.4",
"gene_symbol": "AK8",
"hgnc_id": 26526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Glu464Gln"
}
],
"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
}