← 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: 2-86974217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86974217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86974217,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382344.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "NM_001382344.1",
"protein_id": "NP_001369273.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1756,
"cds_start": 1418,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000641458.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382344.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "ENST00000641458.2",
"protein_id": "ENSP00000492954.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1756,
"cds_start": 1418,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382344.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641458.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "ENST00000398193.8",
"protein_id": "ENSP00000381253.3",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 1756,
"cds_start": 1418,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398193.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "NM_001410915.1",
"protein_id": "NP_001397844.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1756,
"cds_start": 1418,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410915.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Thr465Ile",
"transcript": "NM_001024457.4",
"protein_id": "NP_001019628.3",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 1748,
"cds_start": 1394,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024457.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Thr518Ile",
"transcript": "XM_011532845.4",
"protein_id": "XP_011531147.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1801,
"cds_start": 1553,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532845.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Thr490Ile",
"transcript": "XM_011532849.4",
"protein_id": "XP_011531151.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1696,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532849.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Thr490Ile",
"transcript": "XM_011532850.3",
"protein_id": "XP_011531152.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1684,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532850.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Thr490Ile",
"transcript": "XM_011532851.4",
"protein_id": "XP_011531153.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1670,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532851.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Thr490Ile",
"transcript": "XM_011532852.4",
"protein_id": "XP_011531154.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1669,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532852.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "n.1485C>T",
"hgvs_p": null,
"transcript": "XR_007074605.1",
"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": "XR_007074605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "n.1485C>T",
"hgvs_p": null,
"transcript": "XR_007074622.1",
"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": "XR_007074622.1"
}
],
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"dbsnp": "rs1168709911",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44443321228027344,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.457,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.361,
"phylop100way_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001382344.1",
"gene_symbol": "RGPD1",
"hgnc_id": 32414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile"
}
],
"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
}