← Back to variant description
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: 7-41978628-GTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=41978628&ref=GTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 41978628,
"ref": "GTC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000395925.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "NM_000168.6",
"protein_id": "NP_000159.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "ENST00000395925.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "ENST00000395925.8",
"protein_id": "ENSP00000379258.3",
"transcript_support_level": 5,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "NM_000168.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "ENST00000677605.1",
"protein_id": "ENSP00000503743.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 8223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "ENST00000678429.1",
"protein_id": "ENSP00000502957.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 8237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1442_1443delGA",
"hgvs_p": "p.Arg481fs",
"transcript": "ENST00000677288.1",
"protein_id": "ENSP00000503986.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 1522,
"cds_start": 1442,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 8081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1439_1440delGA",
"hgvs_p": "p.Arg480fs",
"transcript": "ENST00000479210.1",
"protein_id": "ENSP00000496377.1",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1439,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "XM_047420205.1",
"protein_id": "XP_047276161.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "XM_047420206.1",
"protein_id": "XP_047276162.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 9748,
"cdna_end": null,
"cdna_length": 16255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "XM_047420207.1",
"protein_id": "XP_047276163.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "XM_047420208.1",
"protein_id": "XP_047276164.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 8441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs",
"transcript": "XM_047420209.1",
"protein_id": "XP_047276165.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1616,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1613_1614delGA",
"hgvs_p": "p.Arg538fs",
"transcript": "XM_017011997.2",
"protein_id": "XP_016867486.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1579,
"cds_start": 1613,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 11589,
"cdna_end": null,
"cdna_length": 18096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"hgvs_c": "c.1439_1440delGA",
"hgvs_p": "p.Arg480fs",
"transcript": "XM_011515274.3",
"protein_id": "XP_011513576.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1439,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 8101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLI3",
"gene_hgnc_id": 4319,
"dbsnp": "rs398122899",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000395925.8",
"gene_symbol": "GLI3",
"hgnc_id": 4319,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1616_1617delGA",
"hgvs_p": "p.Arg539fs"
}
],
"clinvar_disease": " type A1/B,Postaxial polydactyly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Postaxial polydactyly, type A1/B",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}