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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: 19-7927274-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7927274&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7927274,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006351.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1272G>T",
"hgvs_p": "p.Ala424Ala",
"transcript": "NM_006351.4",
"protein_id": "NP_006342.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 452,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270538.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006351.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1272G>T",
"hgvs_p": "p.Ala424Ala",
"transcript": "ENST00000270538.8",
"protein_id": "ENSP00000270538.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 452,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006351.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270538.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1260G>T",
"hgvs_p": "p.Ala420Ala",
"transcript": "ENST00000923643.1",
"protein_id": "ENSP00000593702.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 448,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923643.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1242G>T",
"hgvs_p": "p.Ala414Ala",
"transcript": "ENST00000870121.1",
"protein_id": "ENSP00000540180.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 442,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870121.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Ala413Ala",
"transcript": "ENST00000923645.1",
"protein_id": "ENSP00000593704.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 441,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923645.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1218G>T",
"hgvs_p": "p.Ala406Ala",
"transcript": "ENST00000870122.1",
"protein_id": "ENSP00000540181.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 434,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870122.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1191G>T",
"hgvs_p": "p.Ala397Ala",
"transcript": "ENST00000957537.1",
"protein_id": "ENSP00000627596.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 425,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957537.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1161G>T",
"hgvs_p": "p.Ala387Ala",
"transcript": "ENST00000923644.1",
"protein_id": "ENSP00000593703.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 415,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923644.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Ala367Ala",
"transcript": "ENST00000957538.1",
"protein_id": "ENSP00000627597.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 395,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957538.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.1071G>T",
"hgvs_p": "p.Ala357Ala",
"transcript": "ENST00000923646.1",
"protein_id": "ENSP00000593705.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 385,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923646.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "c.315G>T",
"hgvs_p": "p.Ala105Ala",
"transcript": "ENST00000595565.5",
"protein_id": "ENSP00000469273.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 133,
"cds_start": 315,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595565.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "n.*879G>T",
"hgvs_p": null,
"transcript": "ENST00000595831.5",
"protein_id": "ENSP00000472916.1",
"transcript_support_level": 5,
"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": "ENST00000595831.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "n.437G>T",
"hgvs_p": null,
"transcript": "ENST00000598968.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000598968.5"
},
{
"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": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "n.696G>T",
"hgvs_p": null,
"transcript": "ENST00000599650.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000599650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "n.1671G>T",
"hgvs_p": null,
"transcript": "ENST00000599939.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "retained_intron",
"feature": "ENST00000599939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"hgvs_c": "n.*879G>T",
"hgvs_p": null,
"transcript": "ENST00000595831.5",
"protein_id": "ENSP00000472916.1",
"transcript_support_level": 5,
"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": "ENST00000595831.5"
}
],
"gene_symbol": "TIMM44",
"gene_hgnc_id": 17316,
"dbsnp": "rs138385134",
"frequency_reference_population": 0.0000075360945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000753609,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.33,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006351.4",
"gene_symbol": "TIMM44",
"hgnc_id": 17316,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1272G>T",
"hgvs_p": "p.Ala424Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}