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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: 6-36291488-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36291488&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36291488,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000457797.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "NM_001374623.1",
"protein_id": "NP_001361552.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 572,
"cds_start": 374,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": "ENST00000636260.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000636260.2",
"protein_id": "ENSP00000490785.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 572,
"cds_start": 374,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": "NM_001374623.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000457797.5",
"protein_id": "ENSP00000391868.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 533,
"cds_start": 374,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000394571.3",
"protein_id": "ENSP00000378072.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 532,
"cds_start": 374,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Thr30Asn",
"transcript": "ENST00000312917.9",
"protein_id": "ENSP00000321116.5",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 446,
"cds_start": 89,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Thr30Asn",
"transcript": "ENST00000388715.7",
"protein_id": "ENSP00000373367.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 437,
"cds_start": 89,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "NM_001145717.1",
"protein_id": "NP_001139189.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 532,
"cds_start": 374,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Thr30Asn",
"transcript": "NM_001145716.2",
"protein_id": "NP_001139188.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 446,
"cds_start": 89,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Thr30Asn",
"transcript": "NM_173676.2",
"protein_id": "NP_775947.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 437,
"cds_start": 89,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "XM_047418678.1",
"protein_id": "XP_047274634.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 552,
"cds_start": 374,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Thr30Asn",
"transcript": "XM_011514520.3",
"protein_id": "XP_011512822.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 477,
"cds_start": 89,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"hgvs_c": "c.-441C>A",
"hgvs_p": null,
"transcript": "XM_017010779.2",
"protein_id": "XP_016866268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PNPLA1",
"gene_hgnc_id": 21246,
"dbsnp": "rs1554137705",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9748820066452026,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.833,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.024,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000457797.5",
"gene_symbol": "PNPLA1",
"hgnc_id": 21246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn"
}
],
"clinvar_disease": "Autosomal recessive congenital ichthyosis 10",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive congenital ichthyosis 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}