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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: 12-64126026-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64126026&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64126026,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000355086.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"hgvs_c": "c.2274T>C",
"hgvs_p": "p.Ser758Ser",
"transcript": "NM_020762.4",
"protein_id": "NP_065813.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2274,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 22920,
"mane_select": "ENST00000355086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"hgvs_c": "c.2274T>C",
"hgvs_p": "p.Ser758Ser",
"transcript": "ENST00000355086.8",
"protein_id": "ENSP00000347198.3",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2274,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 22920,
"mane_select": "NM_020762.4",
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"hgvs_c": "n.3560T>C",
"hgvs_p": null,
"transcript": "ENST00000543397.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"hgvs_c": "c.2205T>C",
"hgvs_p": "p.Ser735Ser",
"transcript": "NM_001346201.2",
"protein_id": "NP_001333130.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 22851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"hgvs_c": "c.2205T>C",
"hgvs_p": "p.Ser735Ser",
"transcript": "ENST00000631006.3",
"protein_id": "ENSP00000485752.2",
"transcript_support_level": 5,
"aa_start": 735,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287618",
"gene_hgnc_id": null,
"hgvs_c": "n.396+4148A>G",
"hgvs_p": null,
"transcript": "ENST00000658485.2",
"protein_id": null,
"transcript_support_level": null,
"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": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105369798",
"gene_hgnc_id": null,
"hgvs_c": "n.559+4148A>G",
"hgvs_p": null,
"transcript": "XR_945018.2",
"protein_id": null,
"transcript_support_level": null,
"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": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRGAP1",
"gene_hgnc_id": 17382,
"dbsnp": "rs789722",
"frequency_reference_population": 0.52732253,
"hom_count_reference_population": 227546,
"allele_count_reference_population": 850971,
"gnomad_exomes_af": 0.522634,
"gnomad_genomes_af": 0.572391,
"gnomad_exomes_ac": 763931,
"gnomad_genomes_ac": 87040,
"gnomad_exomes_homalt": 202106,
"gnomad_genomes_homalt": 25440,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.51,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355086.8",
"gene_symbol": "SRGAP1",
"hgnc_id": 17382,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2274T>C",
"hgvs_p": "p.Ser758Ser"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000658485.2",
"gene_symbol": "ENSG00000287618",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.396+4148A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_945018.2",
"gene_symbol": "LOC105369798",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.559+4148A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}