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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: 11-67490803-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67490803&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67490803,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000279146.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Tyr268Cys",
"transcript": "NM_003977.4",
"protein_id": "NP_003968.3",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 330,
"cds_start": 803,
"cds_end": null,
"cds_length": 993,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "ENST00000279146.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Tyr268Cys",
"transcript": "ENST00000279146.8",
"protein_id": "ENSP00000279146.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 330,
"cds_start": 803,
"cds_end": null,
"cds_length": 993,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "NM_003977.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Tyr268Cys",
"transcript": "ENST00000682699.1",
"protein_id": "ENSP00000507935.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 314,
"cds_start": 803,
"cds_end": null,
"cds_length": 946,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001302959.2",
"protein_id": "NP_001289888.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 271,
"cds_start": 626,
"cds_end": null,
"cds_length": 816,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "ENST00000683856.1",
"protein_id": "ENSP00000507979.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 271,
"cds_start": 626,
"cds_end": null,
"cds_length": 816,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Tyr208Cys",
"transcript": "ENST00000684657.1",
"protein_id": "ENSP00000507961.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 270,
"cds_start": 623,
"cds_end": null,
"cds_length": 813,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.614A>G",
"hgvs_p": "p.Tyr205Cys",
"transcript": "ENST00000528641.7",
"protein_id": "ENSP00000434982.3",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 267,
"cds_start": 614,
"cds_end": null,
"cds_length": 804,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys",
"transcript": "ENST00000682659.1",
"protein_id": "ENSP00000507351.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 207,
"cds_start": 434,
"cds_end": null,
"cds_length": 624,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.795A>G",
"hgvs_p": "p.Leu265Leu",
"transcript": "NM_001302960.2",
"protein_id": "NP_001289889.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 283,
"cds_start": 795,
"cds_end": null,
"cds_length": 852,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.795A>G",
"hgvs_p": "p.Leu265Leu",
"transcript": "ENST00000683237.1",
"protein_id": "ENSP00000507343.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 283,
"cds_start": 795,
"cds_end": null,
"cds_length": 852,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.792A>G",
"hgvs_p": "p.Leu264Leu",
"transcript": "ENST00000684006.1",
"protein_id": "ENSP00000507269.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 282,
"cds_start": 792,
"cds_end": null,
"cds_length": 849,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1182,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "n.1645A>G",
"hgvs_p": null,
"transcript": "ENST00000529797.2",
"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": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.*218A>G",
"hgvs_p": null,
"transcript": "ENST00000525341.2",
"protein_id": "ENSP00000476993.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.469-194A>G",
"hgvs_p": null,
"transcript": "ENST00000682324.1",
"protein_id": "ENSP00000508017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"dbsnp": "rs267606577",
"frequency_reference_population": 0.0000013698987,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013699,
"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": 0.8399080038070679,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.683,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2127,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.188,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000279146.8",
"gene_symbol": "AIP",
"hgnc_id": 358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Tyr268Cys"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Somatotroph adenoma,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"phenotype_combined": "Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}