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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: 19-1986871-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1986871&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1986871,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017797.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Met",
"transcript": "NM_017797.4",
"protein_id": "NP_060267.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 525,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": "ENST00000255608.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017797.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Met",
"transcript": "ENST00000255608.9",
"protein_id": "ENSP00000255608.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 525,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": "NM_017797.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255608.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "n.1169G>A",
"hgvs_p": null,
"transcript": "ENST00000589685.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589685.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Val419Met",
"transcript": "ENST00000936983.1",
"protein_id": "ENSP00000607042.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 485,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936983.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Met",
"transcript": "XM_047439065.1",
"protein_id": "XP_047295021.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 585,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439065.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Met",
"transcript": "XM_047439066.1",
"protein_id": "XP_047295022.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 437,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439066.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Val311Met",
"transcript": "XM_047439067.1",
"protein_id": "XP_047295023.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 377,
"cds_start": 931,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439067.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Val311Met",
"transcript": "XM_047439068.1",
"protein_id": "XP_047295024.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 377,
"cds_start": 931,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "n.1510G>A",
"hgvs_p": null,
"transcript": "ENST00000592895.5",
"protein_id": null,
"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": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592895.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"hgvs_c": "c.*93G>A",
"hgvs_p": null,
"transcript": "ENST00000592082.5",
"protein_id": "ENSP00000481163.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592082.5"
}
],
"gene_symbol": "BTBD2",
"gene_hgnc_id": 15504,
"dbsnp": null,
"frequency_reference_population": 6.8478516e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84785e-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": 0.5376461148262024,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5704,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.732,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017797.4",
"gene_symbol": "BTBD2",
"hgnc_id": 15504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Met"
}
],
"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
}