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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: 10-68468207-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68468207&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68468207,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000358410.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Leu119Leu",
"transcript": "NM_001080449.3",
"protein_id": "NP_001073918.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1060,
"cds_start": 357,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "ENST00000358410.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000358410.8",
"protein_id": "ENSP00000351185.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 1060,
"cds_start": 357,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "NM_001080449.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000551118.6",
"protein_id": "ENSP00000450393.3",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 867,
"cds_start": 357,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Leu149Leu",
"transcript": "XM_006717680.3",
"protein_id": "XP_006717743.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1090,
"cds_start": 447,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4647,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000399179.6",
"protein_id": "ENSP00000382132.3",
"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": 3207,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.*361G>A",
"hgvs_p": null,
"transcript": "ENST00000550357.1",
"protein_id": "ENSP00000450014.1",
"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": 543,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.446G>A",
"hgvs_p": null,
"transcript": "NR_102264.2",
"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": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.-170G>A",
"hgvs_p": null,
"transcript": "XM_017015799.1",
"protein_id": "XP_016871288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.*361G>A",
"hgvs_p": null,
"transcript": "ENST00000550357.1",
"protein_id": "ENSP00000450014.1",
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"dbsnp": "rs10998205",
"frequency_reference_population": 0.10080661,
"hom_count_reference_population": 10558,
"allele_count_reference_population": 162343,
"gnomad_exomes_af": 0.101696,
"gnomad_genomes_af": 0.0922769,
"gnomad_exomes_ac": 148304,
"gnomad_genomes_ac": 14039,
"gnomad_exomes_homalt": 9613,
"gnomad_genomes_homalt": 945,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.356,
"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": -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": "ENST00000358410.8",
"gene_symbol": "DNA2",
"hgnc_id": 2939,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Leu119Leu"
}
],
"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
}