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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: 18-2890718-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=2890718&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 2890718,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_032048.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "NM_032048.3",
"protein_id": "NP_114437.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1053,
"cds_start": 591,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": "ENST00000254528.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032048.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "ENST00000254528.4",
"protein_id": "ENSP00000254528.3",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 1053,
"cds_start": 591,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": "NM_032048.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254528.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "ENST00000942047.1",
"protein_id": "ENSP00000612106.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1042,
"cds_start": 591,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942047.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.468G>C",
"hgvs_p": "p.Thr156Thr",
"transcript": "ENST00000942046.1",
"protein_id": "ENSP00000612105.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1012,
"cds_start": 468,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942046.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "ENST00000939884.1",
"protein_id": "ENSP00000609943.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1010,
"cds_start": 591,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939884.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "ENST00000942045.1",
"protein_id": "ENSP00000612104.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 952,
"cds_start": 591,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942045.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr",
"transcript": "ENST00000894505.1",
"protein_id": "ENSP00000564564.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 909,
"cds_start": 591,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894505.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Thr238Thr",
"transcript": "XM_047437884.1",
"protein_id": "XP_047293840.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 1094,
"cds_start": 714,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437884.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Thr238Thr",
"transcript": "XM_047437885.1",
"protein_id": "XP_047293841.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 1005,
"cds_start": 714,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437885.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Thr238Thr",
"transcript": "XM_047437886.1",
"protein_id": "XP_047293842.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 986,
"cds_start": 714,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437886.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Thr238Thr",
"transcript": "XM_047437887.1",
"protein_id": "XP_047293843.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 873,
"cds_start": 714,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437887.1"
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2547-5284C>G",
"hgvs_p": null,
"transcript": "ENST00000697039.1",
"protein_id": "ENSP00000513061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"hgvs_c": "c.433+5579G>C",
"hgvs_p": null,
"transcript": "ENST00000942044.1",
"protein_id": "ENSP00000612103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942044.1"
}
],
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"dbsnp": "rs200834200",
"frequency_reference_population": 6.8406473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84065e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.966,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_032048.3",
"gene_symbol": "EMILIN2",
"hgnc_id": 19881,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Thr197Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000697039.1",
"gene_symbol": "LPIN2",
"hgnc_id": 14450,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2547-5284C>G",
"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
}