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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: 9-137478118-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137478118&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137478118,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000406427.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Pro933Leu",
"transcript": "NM_001098537.3",
"protein_id": "NP_001092007.2",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2798,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": "ENST00000406427.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Pro933Leu",
"transcript": "ENST00000406427.6",
"protein_id": "ENSP00000384610.1",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2798,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": "NM_001098537.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2723C>T",
"hgvs_p": "p.Pro908Leu",
"transcript": "NM_152286.5",
"protein_id": "NP_689499.4",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1317,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2723C>T",
"hgvs_p": "p.Pro908Leu",
"transcript": "ENST00000277531.8",
"protein_id": "ENSP00000277531.4",
"transcript_support_level": 2,
"aa_start": 908,
"aa_end": null,
"aa_length": 1317,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Pro934Leu",
"transcript": "XM_047423364.1",
"protein_id": "XP_047279320.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2801,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Pro933Leu",
"transcript": "XM_047423365.1",
"protein_id": "XP_047279321.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1358,
"cds_start": 2798,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Pro934Leu",
"transcript": "XM_006717102.2",
"protein_id": "XP_006717165.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2801,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Pro900Leu",
"transcript": "XM_047423366.1",
"protein_id": "XP_047279322.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Pro900Leu",
"transcript": "XM_047423367.1",
"protein_id": "XP_047279323.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 4610,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "n.1537C>T",
"hgvs_p": null,
"transcript": "ENST00000469998.1",
"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": 4150,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"hgvs_c": "n.1314C>T",
"hgvs_p": null,
"transcript": "ENST00000492278.5",
"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": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PNPLA7",
"gene_hgnc_id": 24768,
"dbsnp": "rs3812499",
"frequency_reference_population": 0.0043491554,
"hom_count_reference_population": 370,
"allele_count_reference_population": 5861,
"gnomad_exomes_af": 0.00422555,
"gnomad_genomes_af": 0.00531943,
"gnomad_exomes_ac": 5051,
"gnomad_genomes_ac": 810,
"gnomad_exomes_homalt": 319,
"gnomad_genomes_homalt": 51,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019916296005249023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.257,
"phylop100way_prediction": "Pathogenic",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000406427.6",
"gene_symbol": "PNPLA7",
"hgnc_id": 24768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Pro933Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}