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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: 2-25161223-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25161223&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25161223,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000395826.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "NM_000939.4",
"protein_id": "NP_000930.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "ENST00000395826.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "ENST00000395826.7",
"protein_id": "ENSP00000379170.2",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "NM_000939.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "ENST00000405623.5",
"protein_id": "ENSP00000384092.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "NM_001035256.3",
"protein_id": "NP_001030333.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "NM_001319204.2",
"protein_id": "NP_001306133.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "NM_001319205.2",
"protein_id": "NP_001306134.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "ENST00000264708.7",
"protein_id": "ENSP00000264708.3",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "ENST00000380794.5",
"protein_id": "ENSP00000370171.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 662,
"cds_end": null,
"cds_length": 804,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys",
"transcript": "ENST00000449220.1",
"protein_id": "ENSP00000387993.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 245,
"cds_start": 662,
"cds_end": null,
"cds_length": 739,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POMC",
"gene_hgnc_id": 9201,
"dbsnp": "rs149540566",
"frequency_reference_population": 0.0016550216,
"hom_count_reference_population": 7,
"allele_count_reference_population": 2670,
"gnomad_exomes_af": 0.00173368,
"gnomad_genomes_af": 0.000900049,
"gnomad_exomes_ac": 2533,
"gnomad_genomes_ac": 137,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5040761232376099,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.808,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.637,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000395826.7",
"gene_symbol": "POMC",
"hgnc_id": 9201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Tyr221Cys"
}
],
"clinvar_disease": "Obesity,Obesity due to pro-opiomelanocortin deficiency,POMC-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "Obesity due to pro-opiomelanocortin deficiency|Obesity|POMC-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}