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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: 18-4132821-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=4132821&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 4132821,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000315677.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_004746.4",
"protein_id": "NP_004737.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000315677.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "ENST00000315677.8",
"protein_id": "ENSP00000316377.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_004746.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.237+18359G>A",
"hgvs_p": null,
"transcript": "ENST00000581550.5",
"protein_id": null,
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_001398525.1",
"protein_id": "NP_001385454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_001398526.1",
"protein_id": "NP_001385455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_001398527.1",
"protein_id": "NP_001385456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_001398528.1",
"protein_id": "NP_001385457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": -4,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "NM_001242761.2",
"protein_id": "NP_001229690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "ENST00000581527.5",
"protein_id": "ENSP00000463864.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.259+18359G>A",
"hgvs_p": null,
"transcript": "ENST00000577430.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.108+18359G>A",
"hgvs_p": null,
"transcript": "ENST00000578250.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-625+18359G>A",
"hgvs_p": null,
"transcript": "XM_024451288.2",
"protein_id": "XP_024307056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-625+18359G>A",
"hgvs_p": null,
"transcript": "XM_047437933.1",
"protein_id": "XP_047293889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "XM_047437935.1",
"protein_id": "XP_047293891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "XM_011525771.4",
"protein_id": "XP_011524073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-159+18359G>A",
"hgvs_p": null,
"transcript": "XM_047437936.1",
"protein_id": "XP_047293892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"dbsnp": "rs976469",
"frequency_reference_population": 0.038706325,
"hom_count_reference_population": 313,
"allele_count_reference_population": 5887,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0387063,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5887,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 313,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.379,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000315677.8",
"gene_symbol": "DLGAP1",
"hgnc_id": 2905,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-159+18359G>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
}