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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: 18-49565424-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49565424&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49565424,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006033.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "NM_006033.4",
"protein_id": "NP_006024.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 500,
"cds_start": 205,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261292.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006033.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000261292.9",
"protein_id": "ENSP00000261292.4",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 500,
"cds_start": 205,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006033.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261292.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000580036.5",
"protein_id": "ENSP00000462420.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 354,
"cds_start": 205,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580036.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000959465.1",
"protein_id": "ENSP00000629524.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 497,
"cds_start": 205,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959465.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000931130.1",
"protein_id": "ENSP00000601189.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 440,
"cds_start": 205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931130.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "NM_001308006.2",
"protein_id": "NP_001294935.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 426,
"cds_start": 205,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308006.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000427224.6",
"protein_id": "ENSP00000387978.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 426,
"cds_start": 205,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427224.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000577628.5",
"protein_id": "ENSP00000463835.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 313,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577628.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "XM_047437944.1",
"protein_id": "XP_047293900.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 251,
"cds_start": 313,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437944.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "c.-36G>A",
"hgvs_p": null,
"transcript": "ENST00000583083.1",
"protein_id": "ENSP00000463077.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": null,
"cds_end": null,
"cds_length": 73,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"hgvs_c": "n.169G>A",
"hgvs_p": null,
"transcript": "ENST00000579750.1",
"protein_id": "ENSP00000462480.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000579750.1"
}
],
"gene_symbol": "LIPG",
"gene_hgnc_id": 6623,
"dbsnp": "rs202204825",
"frequency_reference_population": 0.000013629042,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000459595,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3792617917060852,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.043,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006033.4",
"gene_symbol": "LIPG",
"hgnc_id": 6623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser"
}
],
"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
}