← Back to variant description
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: 1-156242567-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156242567&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156242567,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199661.1",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGLAP",
"gene_hgnc_id": 1043,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Ser",
"transcript": "NM_199173.6",
"protein_id": "NP_954642.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 100,
"cds_start": 79,
"cds_end": null,
"cds_length": 303,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 506,
"mane_select": "ENST00000368272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199173.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGLAP",
"gene_hgnc_id": 1043,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Ser",
"transcript": "ENST00000368272.5",
"protein_id": "ENSP00000357255.4",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 100,
"cds_start": 79,
"cds_end": null,
"cds_length": 303,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 506,
"mane_select": "NM_199173.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368272.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"transcript": "ENST00000320139.5",
"protein_id": "ENSP00000324909.5",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 175,
"cds_start": 383,
"cds_end": null,
"cds_length": 528,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320139.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ala193Ala",
"transcript": "ENST00000490491.5",
"protein_id": "ENSP00000475561.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 579,
"cds_end": null,
"cds_length": 636,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490491.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173Gln",
"transcript": "NM_001199661.1",
"protein_id": "NP_001186590.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 220,
"cds_start": 518,
"cds_end": null,
"cds_length": 663,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199661.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173Gln",
"transcript": "ENST00000368276.8",
"protein_id": "ENSP00000357259.4",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 220,
"cds_start": 518,
"cds_end": null,
"cds_length": 663,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368276.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"transcript": "NM_001199663.1",
"protein_id": "NP_001186592.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 175,
"cds_start": 383,
"cds_end": null,
"cds_length": 528,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199663.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ala193Ala",
"transcript": "NM_001199662.1",
"protein_id": "NP_001186591.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 579,
"cds_end": null,
"cds_length": 636,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199662.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Ala124Ala",
"transcript": "NM_001199664.1",
"protein_id": "NP_001186593.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 142,
"cds_start": 372,
"cds_end": null,
"cds_length": 429,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199664.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Ala124Ala",
"transcript": "ENST00000567140.3",
"protein_id": "ENSP00000458021.2",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 142,
"cds_start": 372,
"cds_end": null,
"cds_length": 429,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567140.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGLAP",
"gene_hgnc_id": 1043,
"hgvs_c": "n.379G>A",
"hgvs_p": null,
"transcript": "ENST00000471413.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471413.1"
}
],
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"dbsnp": "rs150202037",
"frequency_reference_population": 0.00002834942,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000171383,
"gnomad_genomes_af": 0.000131851,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02639278769493103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0595,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.407,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001199661.1",
"gene_symbol": "PMF1-BGLAP",
"hgnc_id": 42953,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173Gln"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_199173.6",
"gene_symbol": "BGLAP",
"hgnc_id": 1043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Ser"
}
],
"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
}