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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: 2-156549737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=156549737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 156549737,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000438166.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "NM_000408.5",
"protein_id": "NP_000399.3",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": "ENST00000438166.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000438166.7",
"protein_id": "ENSP00000409708.2",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": "NM_000408.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000310454.10",
"protein_id": "ENSP00000308610.5",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000540309.5",
"protein_id": "ENSP00000440892.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 379,
"cds_start": 791,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "NM_001083112.3",
"protein_id": "NP_001076581.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000409674.5",
"protein_id": "ENSP00000386425.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_005246469.3",
"protein_id": "XP_005246526.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_011510977.3",
"protein_id": "XP_011509279.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_017003830.2",
"protein_id": "XP_016859319.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_024452798.2",
"protein_id": "XP_024308566.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_047443963.1",
"protein_id": "XP_047299919.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "XM_047443964.1",
"protein_id": "XP_047299920.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 727,
"cds_start": 791,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047443965.1",
"protein_id": "XP_047299921.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 693,
"cds_start": 689,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 8601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Arg37His",
"transcript": "XM_047443966.1",
"protein_id": "XP_047299922.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 500,
"cds_start": 110,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 5028,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"hgvs_c": "n.791G>A",
"hgvs_p": null,
"transcript": "ENST00000409861.5",
"protein_id": "ENSP00000386626.1",
"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": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPD2",
"gene_hgnc_id": 4456,
"dbsnp": "rs2116665",
"frequency_reference_population": 0.6940394,
"hom_count_reference_population": 391350,
"allele_count_reference_population": 1119269,
"gnomad_exomes_af": 0.699174,
"gnomad_genomes_af": 0.64475,
"gnomad_exomes_ac": 1021169,
"gnomad_genomes_ac": 98100,
"gnomad_exomes_homalt": 358893,
"gnomad_genomes_homalt": 32457,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000029374814403126948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.019,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000438166.7",
"gene_symbol": "GPD2",
"hgnc_id": 4456,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}