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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: 20-17619712-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17619712&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17619712,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377813.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3596C>T",
"hgvs_p": "p.Ser1199Leu",
"transcript": "NM_001365613.2",
"protein_id": "NP_001352542.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3596,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3909,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": "ENST00000377813.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3596C>T",
"hgvs_p": "p.Ser1199Leu",
"transcript": "ENST00000377813.6",
"protein_id": "ENSP00000367044.1",
"transcript_support_level": 1,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3596,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3909,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": "NM_001365613.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3596C>T",
"hgvs_p": "p.Ser1199Leu",
"transcript": "ENST00000246043.8",
"protein_id": "ENSP00000246043.4",
"transcript_support_level": 1,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3596,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "ENST00000360807.8",
"protein_id": "ENSP00000354045.4",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 977,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.1619C>T",
"hgvs_p": "p.Ser540Leu",
"transcript": "ENST00000455029.3",
"protein_id": "ENSP00000401206.2",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 751,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "NM_001042576.2",
"protein_id": "NP_001036041.2",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 977,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "NM_004587.3",
"protein_id": "NP_004578.3",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 977,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "ENST00000377807.6",
"protein_id": "ENSP00000367038.2",
"transcript_support_level": 5,
"aa_start": 766,
"aa_end": null,
"aa_length": 977,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ser136Leu",
"transcript": "ENST00000470422.5",
"protein_id": "ENSP00000478324.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 346,
"cds_start": 407,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000468428.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"dbsnp": "rs11960",
"frequency_reference_population": 0.67325807,
"hom_count_reference_population": 383119,
"allele_count_reference_population": 1084301,
"gnomad_exomes_af": 0.687336,
"gnomad_genomes_af": 0.538338,
"gnomad_exomes_ac": 1002381,
"gnomad_genomes_ac": 81920,
"gnomad_exomes_homalt": 355738,
"gnomad_genomes_homalt": 27381,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000016560502444917802,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.554,
"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": -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": "ENST00000377813.6",
"gene_symbol": "RRBP1",
"hgnc_id": 10448,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3596C>T",
"hgvs_p": "p.Ser1199Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}