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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: 15-82772169-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82772169&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82772169,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000334574.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "NM_001007122.4",
"protein_id": "NP_001007123.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 749,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": "ENST00000334574.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "ENST00000334574.12",
"protein_id": "ENSP00000335651.8",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 749,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": "NM_001007122.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "ENST00000541889.1",
"protein_id": "ENSP00000444078.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "NM_001281805.2",
"protein_id": "NP_001268734.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "NM_001281806.2",
"protein_id": "NP_001268735.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "XM_005272425.6",
"protein_id": "XP_005272482.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 749,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "XM_024449844.2",
"protein_id": "XP_024305612.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 749,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "XM_024449845.2",
"protein_id": "XP_024305613.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 749,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "XM_011521235.4",
"protein_id": "XP_011519537.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 672,
"cds_start": 940,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "XM_047432156.1",
"protein_id": "XP_047288112.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 456,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*",
"transcript": "XM_017021924.3",
"protein_id": "XP_016877413.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 433,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1715,
"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": "SNHG21",
"gene_hgnc_id": 50284,
"hgvs_c": "n.434+17385G>A",
"hgvs_p": null,
"transcript": "ENST00000834480.1",
"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": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"dbsnp": "rs758413724",
"frequency_reference_population": 0.000008062206,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000616324,
"gnomad_genomes_af": 0.0000262826,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.482,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000334574.12",
"gene_symbol": "FSD2",
"hgnc_id": 18024,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000834480.1",
"gene_symbol": "SNHG21",
"hgnc_id": 50284,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434+17385G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}