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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: 20-38318446-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38318446&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38318446,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000642449.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "NM_001725.3",
"protein_id": "NP_001716.3",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 483,
"cds_start": 634,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": "ENST00000642449.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "ENST00000642449.2",
"protein_id": "ENSP00000494528.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 483,
"cds_start": 634,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": "NM_001725.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "ENST00000262865.10",
"protein_id": "ENSP00000262865.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 446,
"cds_start": 634,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "ENST00000716802.1",
"protein_id": "ENSP00000520600.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 483,
"cds_start": 634,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "ENST00000418004.6",
"protein_id": "ENSP00000520599.1",
"transcript_support_level": 4,
"aa_start": 212,
"aa_end": null,
"aa_length": 446,
"cds_start": 634,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Glu15Gln",
"transcript": "ENST00000417318.3",
"protein_id": "ENSP00000409833.2",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 286,
"cds_start": 43,
"cds_end": null,
"cds_length": 861,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.646G>C",
"hgvs_p": "p.Glu216Gln",
"transcript": "XM_047440393.1",
"protein_id": "XP_047296349.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 450,
"cds_start": 646,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.646G>C",
"hgvs_p": "p.Glu216Gln",
"transcript": "XM_047440394.1",
"protein_id": "XP_047296350.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 421,
"cds_start": 646,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "XM_047440395.1",
"protein_id": "XP_047296351.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 289,
"cds_start": 52,
"cds_end": null,
"cds_length": 870,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "XM_024451972.2",
"protein_id": "XP_024307740.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 252,
"cds_start": 52,
"cds_end": null,
"cds_length": 759,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"hgvs_c": "n.43G>C",
"hgvs_p": null,
"transcript": "ENST00000489102.2",
"protein_id": "ENSP00000486976.1",
"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": 794,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000206249",
"gene_hgnc_id": null,
"hgvs_c": "n.183+7908C>G",
"hgvs_p": null,
"transcript": "ENST00000437016.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BPI",
"gene_hgnc_id": 1095,
"dbsnp": "rs4358188",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05638691782951355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0873,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.105,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642449.2",
"gene_symbol": "BPI",
"hgnc_id": 1095,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437016.1",
"gene_symbol": "ENSG00000206249",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183+7908C>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
}