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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: 9-137236018-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137236018&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137236018,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000673835.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "NM_001177316.2",
"protein_id": "NP_001170787.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": "ENST00000673835.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "ENST00000673835.1",
"protein_id": "ENSP00000501114.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": "NM_001177316.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1884C>A",
"hgvs_p": "p.Cys628*",
"transcript": "XM_047422791.1",
"protein_id": "XP_047278747.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 640,
"cds_start": 1884,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "NM_001177317.2",
"protein_id": "NP_001170788.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "NM_080877.3",
"protein_id": "NP_543153.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "ENST00000361134.2",
"protein_id": "ENSP00000355353.2",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "ENST00000538474.5",
"protein_id": "ENSP00000442397.1",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Arg501Arg",
"transcript": "XM_047422792.1",
"protein_id": "XP_047278748.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 632,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "XM_047422793.1",
"protein_id": "XP_047278749.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422785.1",
"protein_id": "XP_047278741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422786.1",
"protein_id": "XP_047278742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422787.1",
"protein_id": "XP_047278743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422788.1",
"protein_id": "XP_047278744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422789.1",
"protein_id": "XP_047278745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_047422790.1",
"protein_id": "XP_047278746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_011518258.2",
"protein_id": "XP_011516560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_011518259.2",
"protein_id": "XP_011516561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"hgvs_c": "c.*185C>A",
"hgvs_p": null,
"transcript": "XM_011518260.2",
"protein_id": "XP_011516562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC34A3",
"gene_hgnc_id": 20305,
"dbsnp": "rs121918238",
"frequency_reference_population": 0.00014697583,
"hom_count_reference_population": 0,
"allele_count_reference_population": 237,
"gnomad_exomes_af": 0.000157505,
"gnomad_genomes_af": 0.0000459794,
"gnomad_exomes_ac": 230,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.859,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000673835.1",
"gene_symbol": "SLC34A3",
"hgnc_id": 20305,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "SD,AR",
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg"
}
],
"clinvar_disease": "Autosomal recessive hypophosphatemic bone disease,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Autosomal recessive hypophosphatemic bone disease",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}