← 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: 1-167694237-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167694237&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167694237,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052862.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Ala137Ser",
"transcript": "NM_052862.4",
"protein_id": "NP_443094.3",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 416,
"cds_start": 409,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "ENST00000367854.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052862.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Ala137Ser",
"transcript": "ENST00000367854.8",
"protein_id": "ENSP00000356828.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 416,
"cds_start": 409,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "NM_052862.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367854.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Ala107Ser",
"transcript": "ENST00000537350.5",
"protein_id": "ENSP00000439409.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 386,
"cds_start": 319,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537350.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Ala107Ser",
"transcript": "NM_001322923.2",
"protein_id": "NP_001309852.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 386,
"cds_start": 319,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322923.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Ala107Ser",
"transcript": "ENST00000900257.1",
"protein_id": "ENSP00000570316.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 386,
"cds_start": 319,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900257.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.247G>T",
"hgvs_p": "p.Ala83Ser",
"transcript": "NM_001322924.2",
"protein_id": "NP_001309853.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 362,
"cds_start": 247,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322924.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.247G>T",
"hgvs_p": "p.Ala83Ser",
"transcript": "ENST00000900260.1",
"protein_id": "ENSP00000570319.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 362,
"cds_start": 247,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900260.1"
},
{
"aa_ref": "A",
"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": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.145G>T",
"hgvs_p": "p.Ala49Ser",
"transcript": "ENST00000958982.1",
"protein_id": "ENSP00000629041.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 328,
"cds_start": 145,
"cds_end": null,
"cds_length": 987,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958982.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Ala113Ser",
"transcript": "ENST00000361496.3",
"protein_id": "ENSP00000355291.3",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 196,
"cds_start": 337,
"cds_end": null,
"cds_length": 591,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361496.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Ala137Ser",
"transcript": "ENST00000900259.1",
"protein_id": "ENSP00000570318.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 168,
"cds_start": 409,
"cds_end": null,
"cds_length": 507,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900259.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.271-2862G>T",
"hgvs_p": null,
"transcript": "ENST00000900258.1",
"protein_id": "ENSP00000570317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900258.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"hgvs_c": "c.181-2862G>T",
"hgvs_p": null,
"transcript": "ENST00000900261.1",
"protein_id": "ENSP00000570320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900261.1"
}
],
"gene_symbol": "RCSD1",
"gene_hgnc_id": 28310,
"dbsnp": "rs1659444606",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02868950366973877,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.607,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -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_052862.4",
"gene_symbol": "RCSD1",
"hgnc_id": 28310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Ala137Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}