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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: 1-21561127-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21561127&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21561127,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374840.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "NM_000478.6",
"protein_id": "NP_000469.3",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000374840.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000374840.8",
"protein_id": "ENSP00000363973.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_000478.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "NM_001369803.2",
"protein_id": "NP_001356732.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "NM_001369804.2",
"protein_id": "NP_001356733.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "NM_001369805.2",
"protein_id": "NP_001356734.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000374832.5",
"protein_id": "ENSP00000363965.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 524,
"cds_start": 212,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16His",
"transcript": "NM_001127501.4",
"protein_id": "NP_001120973.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 469,
"cds_start": 47,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16His",
"transcript": "ENST00000540617.5",
"protein_id": "ENSP00000442672.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 469,
"cds_start": 47,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 2131,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "n.272G>A",
"hgvs_p": null,
"transcript": "ENST00000468526.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 703,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.66+382G>A",
"hgvs_p": null,
"transcript": "NM_001177520.3",
"protein_id": "NP_001170991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2255,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.66+382G>A",
"hgvs_p": null,
"transcript": "ENST00000539907.5",
"protein_id": "ENSP00000437674.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2241,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.67-11G>A",
"hgvs_p": null,
"transcript": "XM_017000903.2",
"protein_id": "XP_016856392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"dbsnp": "rs121918003",
"frequency_reference_population": 0.000004960779,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000047929,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9943684339523315,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.975,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000374840.8",
"gene_symbol": "ALPL",
"hgnc_id": 438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His"
}
],
"clinvar_disease": "Adult hypophosphatasia,Hypophosphatasia,Infantile hypophosphatasia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "not provided|Hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}