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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: 4-1004320-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1004320&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1004320,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000203.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1893delC",
"hgvs_p": "p.Phe632fs",
"transcript": "NM_000203.5",
"protein_id": "NP_000194.2",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 653,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": "ENST00000514224.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000203.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1893delC",
"hgvs_p": "p.Phe632fs",
"transcript": "ENST00000514224.2",
"protein_id": "ENSP00000425081.2",
"transcript_support_level": 2,
"aa_start": 631,
"aa_end": null,
"aa_length": 653,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": "NM_000203.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514224.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1893delC",
"hgvs_p": "p.Phe632fs",
"transcript": "ENST00000247933.9",
"protein_id": "ENSP00000247933.4",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 653,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247933.9"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1968delC",
"hgvs_p": "p.Phe657fs",
"transcript": "ENST00000962389.1",
"protein_id": "ENSP00000632448.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 678,
"cds_start": 1968,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962389.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1932delC",
"hgvs_p": "p.Phe645fs",
"transcript": "ENST00000871737.1",
"protein_id": "ENSP00000541796.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 666,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871737.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1893delC",
"hgvs_p": "p.Phe632fs",
"transcript": "ENST00000962388.1",
"protein_id": "ENSP00000632447.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 653,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962388.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1887delC",
"hgvs_p": "p.Phe630fs",
"transcript": "ENST00000871736.1",
"protein_id": "ENSP00000541795.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 651,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871736.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1860delC",
"hgvs_p": "p.Phe621fs",
"transcript": "ENST00000871734.1",
"protein_id": "ENSP00000541793.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 642,
"cds_start": 1860,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871734.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1836delC",
"hgvs_p": "p.Phe613fs",
"transcript": "ENST00000871738.1",
"protein_id": "ENSP00000541797.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 634,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871738.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1785delC",
"hgvs_p": "p.Phe596fs",
"transcript": "ENST00000871735.1",
"protein_id": "ENSP00000541794.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 617,
"cds_start": 1785,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871735.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1767delC",
"hgvs_p": "p.Phe590fs",
"transcript": "ENST00000871739.1",
"protein_id": "ENSP00000541798.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 611,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871739.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1644delC",
"hgvs_p": "p.Phe549fs",
"transcript": "ENST00000962390.1",
"protein_id": "ENSP00000632449.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 570,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962390.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.1497delC",
"hgvs_p": "p.Phe500fs",
"transcript": "NM_001363576.1",
"protein_id": "NP_001350505.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 521,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "n.2004delC",
"hgvs_p": null,
"transcript": "ENST00000514698.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514698.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "n.1949delC",
"hgvs_p": null,
"transcript": "ENST00000652070.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "n.1985delC",
"hgvs_p": null,
"transcript": "NR_110313.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110313.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.*329delC",
"hgvs_p": null,
"transcript": "XM_047415650.1",
"protein_id": "XP_047271606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415650.1"
}
],
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"dbsnp": "rs1553917754",
"frequency_reference_population": 0.0000027406459,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274065,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.14,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000203.5",
"gene_symbol": "IDUA",
"hgnc_id": 5391,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1893delC",
"hgvs_p": "p.Phe632fs"
}
],
"clinvar_disease": "Hurler syndrome,Mucopolysaccharidosis type 1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Mucopolysaccharidosis type 1|Hurler syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}