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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: 8-144318358-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144318358&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144318358,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000528718.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Gly193Gly",
"transcript": "NM_012079.6",
"protein_id": "NP_036211.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 488,
"cds_start": 579,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": "ENST00000528718.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000528718.6",
"protein_id": "ENSP00000482264.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 488,
"cds_start": 579,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": "NM_012079.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000332324.5",
"protein_id": "ENSP00000332258.5",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 315,
"cds_start": 579,
"cds_end": null,
"cds_length": 948,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Gly136Gly",
"transcript": "XM_011517356.4",
"protein_id": "XP_011515658.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 431,
"cds_start": 408,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Gly133Gly",
"transcript": "XM_047422387.1",
"protein_id": "XP_047278343.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 428,
"cds_start": 399,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Gly99Gly",
"transcript": "XM_047422388.1",
"protein_id": "XP_047278344.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 394,
"cds_start": 297,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Gly99Gly",
"transcript": "XM_047422389.1",
"protein_id": "XP_047278345.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 394,
"cds_start": 297,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 3313,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.137C>T",
"hgvs_p": null,
"transcript": "ENST00000524965.5",
"protein_id": null,
"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": 1336,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000525371.1",
"protein_id": null,
"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": 840,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.617C>T",
"hgvs_p": null,
"transcript": "ENST00000531896.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.-37C>T",
"hgvs_p": null,
"transcript": "ENST00000524844.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"dbsnp": "rs56180335",
"frequency_reference_population": 0.06308344,
"hom_count_reference_population": 3666,
"allele_count_reference_population": 101622,
"gnomad_exomes_af": 0.0648502,
"gnomad_genomes_af": 0.0461654,
"gnomad_exomes_ac": 94590,
"gnomad_genomes_ac": 7032,
"gnomad_exomes_homalt": 3434,
"gnomad_genomes_homalt": 232,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.158,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000528718.6",
"gene_symbol": "DGAT1",
"hgnc_id": 2843,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Gly193Gly"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}