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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: 18-2891041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=2891041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 2891041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032048.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "NM_032048.3",
"protein_id": "NP_114437.2",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1053,
"cds_start": 914,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254528.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032048.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000254528.4",
"protein_id": "ENSP00000254528.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 1053,
"cds_start": 914,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032048.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254528.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000942047.1",
"protein_id": "ENSP00000612106.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1042,
"cds_start": 914,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942047.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.791C>T",
"hgvs_p": "p.Thr264Met",
"transcript": "ENST00000942046.1",
"protein_id": "ENSP00000612105.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1012,
"cds_start": 791,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942046.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000939884.1",
"protein_id": "ENSP00000609943.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1010,
"cds_start": 914,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939884.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000942045.1",
"protein_id": "ENSP00000612104.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 952,
"cds_start": 914,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942045.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000894505.1",
"protein_id": "ENSP00000564564.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 909,
"cds_start": 914,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894505.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "XM_047437884.1",
"protein_id": "XP_047293840.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1037,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437884.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "XM_047437885.1",
"protein_id": "XP_047293841.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1037,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437885.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "XM_047437886.1",
"protein_id": "XP_047293842.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 986,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437886.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "XM_047437887.1",
"protein_id": "XP_047293843.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 873,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.2547-5607G>A",
"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": null,
"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+5902C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942044.1"
}
],
"gene_symbol": "EMILIN2",
"gene_hgnc_id": 19881,
"dbsnp": "rs755497750",
"frequency_reference_population": 0.00003407573,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000355712,
"gnomad_genomes_af": 0.0000197114,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3138390779495239,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1067,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.794,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_032048.3",
"gene_symbol": "EMILIN2",
"hgnc_id": 19881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Thr305Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000697039.1",
"gene_symbol": "LPIN2",
"hgnc_id": 14450,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2547-5607G>A",
"hgvs_p": null
}
],
"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
}