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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: 22-37757811-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37757811&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37757811,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000644935.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.5886A>G",
"hgvs_p": "p.Pro1962Pro",
"transcript": "NM_001039141.3",
"protein_id": "NP_001034230.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2365,
"cds_start": 5886,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 6097,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "ENST00000644935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.5886A>G",
"hgvs_p": "p.Pro1962Pro",
"transcript": "ENST00000644935.1",
"protein_id": "ENSP00000496394.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2365,
"cds_start": 5886,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 6097,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "NM_001039141.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Pro249Pro",
"transcript": "ENST00000403663.6",
"protein_id": "ENSP00000386026.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 652,
"cds_start": 747,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Pro249Pro",
"transcript": "ENST00000407319.7",
"protein_id": "ENSP00000383913.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 431,
"cds_start": 747,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Pro249Pro",
"transcript": "NM_007032.5",
"protein_id": "NP_008963.3",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 652,
"cds_start": 747,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Pro249Pro",
"transcript": "NM_138632.2",
"protein_id": "NP_619538.2",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 431,
"cds_start": 747,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.606A>G",
"hgvs_p": "p.Pro202Pro",
"transcript": "ENST00000428075.5",
"protein_id": "ENSP00000399006.1",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 309,
"cds_start": 606,
"cds_end": null,
"cds_length": 930,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.624A>G",
"hgvs_p": "p.Pro208Pro",
"transcript": "ENST00000418339.5",
"protein_id": "ENSP00000396946.1",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 264,
"cds_start": 624,
"cds_end": null,
"cds_length": 795,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.534A>G",
"hgvs_p": "p.Pro178Pro",
"transcript": "ENST00000417857.1",
"protein_id": "ENSP00000387881.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 255,
"cds_start": 534,
"cds_end": null,
"cds_length": 770,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*5369A>G",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*443A>G",
"hgvs_p": null,
"transcript": "ENST00000413051.2",
"protein_id": "ENSP00000400680.2",
"transcript_support_level": 5,
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*5369A>G",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*443A>G",
"hgvs_p": null,
"transcript": "ENST00000413051.2",
"protein_id": "ENSP00000400680.2",
"transcript_support_level": 5,
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"dbsnp": "rs372220018",
"frequency_reference_population": 0.00029520056,
"hom_count_reference_population": 1,
"allele_count_reference_population": 457,
"gnomad_exomes_af": 0.000149731,
"gnomad_genomes_af": 0.00162877,
"gnomad_exomes_ac": 209,
"gnomad_genomes_ac": 248,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012000000104308128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.361,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000644935.1",
"gene_symbol": "TRIOBP",
"hgnc_id": 17009,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5886A>G",
"hgvs_p": "p.Pro1962Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}