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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: 9-91214371-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=91214371&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 91214371,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001698.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Pro333Thr",
"transcript": "NM_001698.3",
"protein_id": "NP_001689.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 339,
"cds_start": 997,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": "ENST00000375731.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Pro333Thr",
"transcript": "ENST00000375731.9",
"protein_id": "ENSP00000364883.5",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 339,
"cds_start": 997,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": "NM_001698.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Pro304Thr",
"transcript": "ENST00000303617.5",
"protein_id": "ENSP00000307334.5",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 310,
"cds_start": 910,
"cds_end": null,
"cds_length": 933,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Pro304Thr",
"transcript": "NM_001306190.2",
"protein_id": "NP_001293119.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 310,
"cds_start": 910,
"cds_end": null,
"cds_length": 933,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Pro224Thr",
"transcript": "NM_001351431.2",
"protein_id": "NP_001338360.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 670,
"cds_end": null,
"cds_length": 693,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Pro224Thr",
"transcript": "NM_001351432.2",
"protein_id": "NP_001338361.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 670,
"cds_end": null,
"cds_length": 693,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.622C>A",
"hgvs_p": "p.Pro208Thr",
"transcript": "NM_001351433.2",
"protein_id": "NP_001338362.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 214,
"cds_start": 622,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Pro343Thr",
"transcript": "XM_005252066.4",
"protein_id": "XP_005252123.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 349,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.979C>A",
"hgvs_p": "p.Pro327Thr",
"transcript": "XM_005252067.5",
"protein_id": "XP_005252124.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 333,
"cds_start": 979,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Pro317Thr",
"transcript": "XM_017014849.2",
"protein_id": "XP_016870338.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 323,
"cds_start": 949,
"cds_end": null,
"cds_length": 972,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.940C>A",
"hgvs_p": "p.Pro314Thr",
"transcript": "XM_006717150.4",
"protein_id": "XP_006717213.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 320,
"cds_start": 940,
"cds_end": null,
"cds_length": 963,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Pro288Thr",
"transcript": "XM_047423525.1",
"protein_id": "XP_047279481.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 862,
"cds_end": null,
"cds_length": 885,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Pro225Thr",
"transcript": "XM_047423527.1",
"protein_id": "XP_047279483.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 231,
"cds_start": 673,
"cds_end": null,
"cds_length": 696,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Pro224Thr",
"transcript": "XM_047423528.1",
"protein_id": "XP_047279484.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 670,
"cds_end": null,
"cds_length": 693,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Pro185Thr",
"transcript": "XM_047423530.1",
"protein_id": "XP_047279486.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 191,
"cds_start": 553,
"cds_end": null,
"cds_length": 576,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1219,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "n.221C>A",
"hgvs_p": null,
"transcript": "ENST00000473695.1",
"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": 632,
"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": "ENSG00000306114",
"gene_hgnc_id": null,
"hgvs_c": "n.150-3394G>T",
"hgvs_p": null,
"transcript": "ENST00000815380.1",
"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": 462,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306114",
"gene_hgnc_id": null,
"hgvs_c": "n.167+569G>T",
"hgvs_p": null,
"transcript": "ENST00000815381.1",
"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": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"dbsnp": "rs765064728",
"frequency_reference_population": 0.000014287099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000010976,
"gnomad_genomes_af": 0.0000460157,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12645623087882996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.112,
"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": "PM1,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001698.3",
"gene_symbol": "AUH",
"hgnc_id": 890,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Pro333Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000815380.1",
"gene_symbol": "ENSG00000306114",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.150-3394G>T",
"hgvs_p": null
}
],
"clinvar_disease": "3-methylglutaconic aciduria type 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "3-methylglutaconic aciduria type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}