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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: 18-26501144-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=26501144&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 26501144,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000580059.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.1916C>T",
"hgvs_p": "p.Pro639Leu",
"transcript": "NM_001142730.3",
"protein_id": "NP_001136202.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 865,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": "ENST00000580059.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.1916C>T",
"hgvs_p": "p.Pro639Leu",
"transcript": "ENST00000580059.7",
"protein_id": "ENSP00000463041.2",
"transcript_support_level": 3,
"aa_start": 639,
"aa_end": null,
"aa_length": 865,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": "NM_001142730.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000408011.7",
"protein_id": "ENSP00000384367.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000579973.5",
"protein_id": "ENSP00000464170.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001258222.3",
"protein_id": "NP_001245151.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 265,
"cds_start": 116,
"cds_end": null,
"cds_length": 798,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000580191.5",
"protein_id": "ENSP00000464261.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 259,
"cds_start": 116,
"cds_end": null,
"cds_length": 781,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "NM_001136205.2",
"protein_id": "NP_001129677.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "NM_001258221.2",
"protein_id": "NP_001245150.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "NM_001351443.1",
"protein_id": "NP_001338372.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "NM_198991.4",
"protein_id": "NP_945342.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000317932.11",
"protein_id": "ENSP00000314831.7",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000417602.5",
"protein_id": "ENSP00000408405.2",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 92,
"cds_end": null,
"cds_length": 774,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000580638.5",
"protein_id": "ENSP00000462470.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 207,
"cds_start": 92,
"cds_end": null,
"cds_length": 625,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Pro31Leu",
"transcript": "ENST00000578973.1",
"protein_id": "ENSP00000463608.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 99,
"cds_start": 92,
"cds_end": null,
"cds_length": 301,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCTD1",
"gene_hgnc_id": 18249,
"dbsnp": "rs587776999",
"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": 0.7960644960403442,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.502,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.503,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000580059.7",
"gene_symbol": "KCTD1",
"hgnc_id": 18249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1916C>T",
"hgvs_p": "p.Pro639Leu"
}
],
"clinvar_disease": "Scalp-ear-nipple syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Scalp-ear-nipple syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}