← 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: 2-9995949-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9995949&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9995949,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000324907.14",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp",
"transcript": "NM_198182.3",
"protein_id": "NP_937825.2",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 618,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": "ENST00000324907.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp",
"transcript": "ENST00000324907.14",
"protein_id": "ENSP00000324693.9",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 618,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": "NM_198182.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1003C>T",
"hgvs_p": "p.Arg335Trp",
"transcript": "ENST00000405379.6",
"protein_id": "ENSP00000384209.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 429,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1881,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "n.*60C>T",
"hgvs_p": null,
"transcript": "ENST00000472167.5",
"protein_id": "ENSP00000418275.1",
"transcript_support_level": 1,
"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": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "n.*60C>T",
"hgvs_p": null,
"transcript": "ENST00000472167.5",
"protein_id": "ENSP00000418275.1",
"transcript_support_level": 1,
"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": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.-69C>T",
"hgvs_p": null,
"transcript": "ENST00000480736.1",
"protein_id": "ENSP00000419831.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1606C>T",
"hgvs_p": "p.Arg536Trp",
"transcript": "XM_006711882.4",
"protein_id": "XP_006711945.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 630,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1465C>T",
"hgvs_p": "p.Arg489Trp",
"transcript": "XM_011510343.3",
"protein_id": "XP_011508645.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 583,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Trp",
"transcript": "XM_047444017.1",
"protein_id": "XP_047299973.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 571,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385Trp",
"transcript": "XM_017003900.2",
"protein_id": "XP_016859389.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 479,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Trp",
"transcript": "XM_047444018.1",
"protein_id": "XP_047299974.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 441,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.1003C>T",
"hgvs_p": "p.Arg335Trp",
"transcript": "XM_047444019.1",
"protein_id": "XP_047299975.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 429,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3161,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "n.*812C>T",
"hgvs_p": null,
"transcript": "ENST00000464418.5",
"protein_id": "ENSP00000420654.1",
"transcript_support_level": 2,
"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": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124905970",
"gene_hgnc_id": null,
"hgvs_c": "n.1053G>A",
"hgvs_p": null,
"transcript": "XR_007086207.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "c.-69C>T",
"hgvs_p": null,
"transcript": "ENST00000480736.1",
"protein_id": "ENSP00000419831.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "n.*812C>T",
"hgvs_p": null,
"transcript": "ENST00000464418.5",
"protein_id": "ENSP00000420654.1",
"transcript_support_level": 2,
"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": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "GRHL1",
"gene_hgnc_id": 17923,
"hgvs_c": "n.*43C>T",
"hgvs_p": null,
"transcript": "XR_001738726.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRHL1",
"gene_hgnc_id": 17923,
"dbsnp": "rs761933034",
"frequency_reference_population": 0.0000027496815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274968,
"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": 0.7200922966003418,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5163,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.896,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000324907.14",
"gene_symbol": "GRHL1",
"hgnc_id": 17923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007086207.1",
"gene_symbol": "LOC124905970",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1053G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}