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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: 10-68465747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68465747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68465747,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001080449.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "NM_001080449.3",
"protein_id": "NP_001073918.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1060,
"cds_start": 507,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358410.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080449.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000358410.8",
"protein_id": "ENSP00000351185.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 1060,
"cds_start": 507,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080449.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358410.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000551118.6",
"protein_id": "ENSP00000450393.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 867,
"cds_start": 507,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551118.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936797.1",
"protein_id": "ENSP00000606856.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1091,
"cds_start": 507,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936797.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936795.1",
"protein_id": "ENSP00000606854.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1025,
"cds_start": 507,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936795.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936796.1",
"protein_id": "ENSP00000606855.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1016,
"cds_start": 507,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936796.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ala108Ala",
"transcript": "ENST00000936799.1",
"protein_id": "ENSP00000606858.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 999,
"cds_start": 324,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936799.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936792.1",
"protein_id": "ENSP00000606851.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 983,
"cds_start": 507,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936792.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936791.1",
"protein_id": "ENSP00000606850.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 970,
"cds_start": 507,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936791.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936794.1",
"protein_id": "ENSP00000606853.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 953,
"cds_start": 507,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936794.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ala108Ala",
"transcript": "ENST00000936793.1",
"protein_id": "ENSP00000606852.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 922,
"cds_start": 324,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936793.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000941878.1",
"protein_id": "ENSP00000611937.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 914,
"cds_start": 507,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941878.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936790.1",
"protein_id": "ENSP00000606849.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 897,
"cds_start": 507,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936790.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936800.1",
"protein_id": "ENSP00000606859.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 893,
"cds_start": 507,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936800.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936798.1",
"protein_id": "ENSP00000606857.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 828,
"cds_start": 507,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936798.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000936801.1",
"protein_id": "ENSP00000606860.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 822,
"cds_start": 507,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936801.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ala199Ala",
"transcript": "XM_006717680.3",
"protein_id": "XP_006717743.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1090,
"cds_start": 597,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717680.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.-86+2376C>T",
"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": null,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015799.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.507C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399179.6"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.596C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102264.2"
}
],
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"dbsnp": "rs3758626",
"frequency_reference_population": 0.000006583365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658337,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.314,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001080449.3",
"gene_symbol": "DNA2",
"hgnc_id": 2939,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}