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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: 6-46655961-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=46655961&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 46655961,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000371347.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "NM_004277.5",
"protein_id": "NP_004268.3",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 323,
"cds_start": 225,
"cds_end": null,
"cds_length": 972,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "ENST00000371347.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "ENST00000371347.10",
"protein_id": "ENSP00000360398.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 323,
"cds_start": 225,
"cds_end": null,
"cds_length": 972,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "NM_004277.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "ENST00000411689.6",
"protein_id": "ENSP00000412024.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 245,
"cds_start": 225,
"cds_end": null,
"cds_length": 738,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "NM_001204051.2",
"protein_id": "NP_001190980.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 300,
"cds_start": 225,
"cds_end": null,
"cds_length": 903,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "NM_001204052.2",
"protein_id": "NP_001190981.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 245,
"cds_start": 225,
"cds_end": null,
"cds_length": 738,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala",
"transcript": "XM_005249483.3",
"protein_id": "XP_005249540.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 310,
"cds_start": 225,
"cds_end": null,
"cds_length": 933,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2759,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "n.443T>C",
"hgvs_p": null,
"transcript": "XR_007059387.1",
"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": 2059,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "n.443T>C",
"hgvs_p": null,
"transcript": "XR_007059388.1",
"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": 1795,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "n.387T>C",
"hgvs_p": null,
"transcript": "XR_007059389.1",
"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": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"hgvs_c": "c.-87T>C",
"hgvs_p": null,
"transcript": "XM_047419575.1",
"protein_id": "XP_047275531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A27",
"gene_hgnc_id": 21065,
"dbsnp": "rs3757241",
"frequency_reference_population": 0.82155734,
"hom_count_reference_population": 545878,
"allele_count_reference_population": 1325591,
"gnomad_exomes_af": 0.818242,
"gnomad_genomes_af": 0.853429,
"gnomad_exomes_ac": 1195834,
"gnomad_genomes_ac": 129757,
"gnomad_exomes_homalt": 490110,
"gnomad_genomes_homalt": 55768,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.175,
"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": "ENST00000371347.10",
"gene_symbol": "SLC25A27",
"hgnc_id": 21065,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Ala75Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}