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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: 14-55148430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=55148430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 55148430,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014750.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys",
"transcript": "NM_014750.5",
"protein_id": "NP_055565.3",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000247191.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014750.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys",
"transcript": "ENST00000247191.7",
"protein_id": "ENSP00000247191.2",
"transcript_support_level": 1,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014750.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247191.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.*24G>A",
"hgvs_p": null,
"transcript": "ENST00000395425.6",
"protein_id": "ENSP00000378815.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395425.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys",
"transcript": "ENST00000940500.1",
"protein_id": "ENSP00000610559.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940500.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys",
"transcript": "ENST00000940504.1",
"protein_id": "ENSP00000610563.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940504.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2120G>A",
"hgvs_p": "p.Arg707Lys",
"transcript": "ENST00000940502.1",
"protein_id": "ENSP00000610561.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 732,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940502.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2099G>A",
"hgvs_p": "p.Arg700Lys",
"transcript": "ENST00000940501.1",
"protein_id": "ENSP00000610560.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 725,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940501.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Lys",
"transcript": "ENST00000940503.1",
"protein_id": "ENSP00000610562.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 53,
"cds_start": 83,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940503.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys",
"transcript": "XM_017021840.3",
"protein_id": "XP_016877329.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021840.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.*24G>A",
"hgvs_p": null,
"transcript": "NM_001146015.2",
"protein_id": "NP_001139487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146015.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"hgvs_c": "c.*24G>A",
"hgvs_p": null,
"transcript": "XM_047432016.1",
"protein_id": "XP_047287972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432016.1"
}
],
"gene_symbol": "DLGAP5",
"gene_hgnc_id": 16864,
"dbsnp": "rs771359780",
"frequency_reference_population": 0.000015049527,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000150495,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040056437253952026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.084,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.182,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014750.5",
"gene_symbol": "DLGAP5",
"hgnc_id": 16864,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}