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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: 2-45551131-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=45551131&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 45551131,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000263736.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "NM_018079.5",
"protein_id": "NP_060549.4",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 995,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000263736.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "ENST00000263736.5",
"protein_id": "ENSP00000263736.4",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 995,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_018079.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_011532946.3",
"protein_id": "XP_011531248.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 979,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_047444857.1",
"protein_id": "XP_047300813.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 666,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_047444858.1",
"protein_id": "XP_047300814.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 666,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_047444859.1",
"protein_id": "XP_047300815.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 656,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_047444860.1",
"protein_id": "XP_047300816.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 640,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Pro76Ser",
"transcript": "XM_047444861.1",
"protein_id": "XP_047300817.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Pro76Ser",
"transcript": "XM_047444862.1",
"protein_id": "XP_047300818.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2268,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"hgvs_c": "n.450C>T",
"hgvs_p": null,
"transcript": "ENST00000493649.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRBD1",
"gene_hgnc_id": 25521,
"dbsnp": "rs191218188",
"frequency_reference_population": 0.000005652954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000486175,
"gnomad_genomes_af": 0.0000131339,
"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": 0.5145926475524902,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.342,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1274,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.224,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263736.5",
"gene_symbol": "SRBD1",
"hgnc_id": 25521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser"
}
],
"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
}