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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: 1-89112539-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=89112539&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 89112539,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004120.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "NM_004120.5",
"protein_id": "NP_004111.2",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 591,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370466.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004120.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000370466.4",
"protein_id": "ENSP00000359497.3",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 591,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004120.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370466.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000875570.1",
"protein_id": "ENSP00000545629.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 595,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875570.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000875572.1",
"protein_id": "ENSP00000545631.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 591,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875572.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000875573.1",
"protein_id": "ENSP00000545632.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 591,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875573.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000875576.1",
"protein_id": "ENSP00000545635.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 587,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875576.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000875571.1",
"protein_id": "ENSP00000545630.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 583,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875571.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000875574.1",
"protein_id": "ENSP00000545633.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 583,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875574.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "ENST00000970152.1",
"protein_id": "ENSP00000640213.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 564,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970152.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "ENST00000875577.1",
"protein_id": "ENSP00000545636.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 541,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875577.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Arg351His",
"transcript": "ENST00000875575.1",
"protein_id": "ENSP00000545634.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 510,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "n.3314G>A",
"hgvs_p": null,
"transcript": "ENST00000463660.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "n.1295G>A",
"hgvs_p": null,
"transcript": "ENST00000464839.5",
"protein_id": "ENSP00000434282.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464839.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"hgvs_c": "n.255G>A",
"hgvs_p": null,
"transcript": "ENST00000493802.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000493802.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307222",
"gene_hgnc_id": null,
"hgvs_c": "n.426-854C>T",
"hgvs_p": null,
"transcript": "ENST00000824610.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000824610.1"
}
],
"gene_symbol": "GBP2",
"gene_hgnc_id": 4183,
"dbsnp": "rs139664617",
"frequency_reference_population": 0.000014250292,
"hom_count_reference_population": 1,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000129971,
"gnomad_genomes_af": 0.0000262919,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08229172229766846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0674,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.588,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004120.5",
"gene_symbol": "GBP2",
"hgnc_id": 4183,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000824610.1",
"gene_symbol": "ENSG00000307222",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.426-854C>T",
"hgvs_p": null
}
],
"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
}