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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: 9-132792655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132792655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132792655,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000298545.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367His",
"transcript": "NM_152572.3",
"protein_id": "NP_689785.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 479,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "ENST00000298545.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367His",
"transcript": "ENST00000298545.4",
"protein_id": "ENSP00000298545.3",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 479,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "NM_152572.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338His",
"transcript": "NM_001371771.1",
"protein_id": "NP_001358700.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 450,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "NM_001371772.1",
"protein_id": "NP_001358701.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 434,
"cds_start": 965,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "NM_001317959.2",
"protein_id": "NP_001304888.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 307,
"cds_start": 584,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163His",
"transcript": "NM_001317958.2",
"protein_id": "NP_001304887.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 275,
"cds_start": 488,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163His",
"transcript": "NM_001371773.1",
"protein_id": "NP_001358702.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 275,
"cds_start": 488,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163His",
"transcript": "NM_001371774.1",
"protein_id": "NP_001358703.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 275,
"cds_start": 488,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_005272169.3",
"protein_id": "XP_005272226.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 491,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"transcript": "XM_006716965.3",
"protein_id": "XP_006717028.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 407,
"cds_start": 884,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "XM_011518278.3",
"protein_id": "XP_011516580.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 405,
"cds_start": 878,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "XM_017014308.2",
"protein_id": "XP_016869797.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 307,
"cds_start": 584,
"cds_end": null,
"cds_length": 924,
"cdna_start": 713,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.1537G>A",
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.2015G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.1015+21983G>A",
"hgvs_p": null,
"transcript": "XM_047422822.1",
"protein_id": "XP_047278778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"dbsnp": "rs147022583",
"frequency_reference_population": 0.000019305939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000142683,
"gnomad_genomes_af": 0.0000656953,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10360541939735413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.0625,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.553,
"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": -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.1100G>A",
"hgvs_p": "p.Arg367His"
}
],
"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
}