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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: 2-37367233-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37367233&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37367233,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_012413.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "NM_012413.4",
"protein_id": "NP_036545.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 361,
"cds_start": 548,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": "ENST00000338415.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012413.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000338415.8",
"protein_id": "ENSP00000344829.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 361,
"cds_start": 548,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": "NM_012413.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338415.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000952066.1",
"protein_id": "ENSP00000622125.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 322,
"cds_start": 548,
"cds_end": null,
"cds_length": 969,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952066.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "ENST00000404976.5",
"protein_id": "ENSP00000385391.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 283,
"cds_start": 401,
"cds_end": null,
"cds_length": 854,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404976.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile",
"transcript": "ENST00000897772.1",
"protein_id": "ENSP00000567831.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 268,
"cds_start": 269,
"cds_end": null,
"cds_length": 807,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897772.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Thr41Ile",
"transcript": "ENST00000952067.1",
"protein_id": "ENSP00000622126.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 219,
"cds_start": 122,
"cds_end": null,
"cds_length": 660,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952067.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Ile",
"transcript": "ENST00000650442.1",
"protein_id": "ENSP00000498156.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 136,
"cds_start": 356,
"cds_end": null,
"cds_length": 413,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "c.547-35C>T",
"hgvs_p": null,
"transcript": "ENST00000952068.1",
"protein_id": "ENSP00000622127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952068.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "n.111C>T",
"hgvs_p": null,
"transcript": "ENST00000469098.1",
"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": 852,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"hgvs_c": "n.458C>T",
"hgvs_p": null,
"transcript": "ENST00000480050.1",
"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": 651,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480050.1"
}
],
"gene_symbol": "QPCT",
"gene_hgnc_id": 9753,
"dbsnp": "rs151306583",
"frequency_reference_population": 0.0000055897845,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000480126,
"gnomad_genomes_af": 0.0000131468,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05298304557800293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.458,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000288608533071052,
"dbscsnv_ada_prediction": "Benign",
"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": "NM_012413.4",
"gene_symbol": "QPCT",
"hgnc_id": 9753,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}