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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: 16-4609650-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4609650&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4609650,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145253.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Met173Val",
"transcript": "NM_145253.3",
"protein_id": "NP_660296.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 177,
"cds_start": 517,
"cds_end": null,
"cds_length": 534,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": "ENST00000283474.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145253.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Met173Val",
"transcript": "ENST00000283474.12",
"protein_id": "ENSP00000283474.6",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 177,
"cds_start": 517,
"cds_end": null,
"cds_length": 534,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": "NM_145253.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283474.12"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Met208Val",
"transcript": "ENST00000590891.1",
"protein_id": "ENSP00000465706.1",
"transcript_support_level": 6,
"aa_start": 208,
"aa_end": null,
"aa_length": 212,
"cds_start": 622,
"cds_end": null,
"cds_length": 639,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590891.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Met152Val",
"transcript": "ENST00000591401.5",
"protein_id": "ENSP00000467671.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 156,
"cds_start": 454,
"cds_end": null,
"cds_length": 471,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591401.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Met148Val",
"transcript": "NM_001330467.2",
"protein_id": "NP_001317396.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 152,
"cds_start": 442,
"cds_end": null,
"cds_length": 459,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330467.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Met148Val",
"transcript": "ENST00000587615.1",
"protein_id": "ENSP00000466404.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 152,
"cds_start": 442,
"cds_end": null,
"cds_length": 459,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587615.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.379A>G",
"hgvs_p": "p.Met127Val",
"transcript": "ENST00000875242.1",
"protein_id": "ENSP00000545301.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 131,
"cds_start": 379,
"cds_end": null,
"cds_length": 396,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875242.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Met113Val",
"transcript": "ENST00000591897.5",
"protein_id": "ENSP00000464725.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 117,
"cds_start": 337,
"cds_end": null,
"cds_length": 354,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591897.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.*333A>G",
"hgvs_p": null,
"transcript": "NM_001411032.1",
"protein_id": "NP_001397961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.*333A>G",
"hgvs_p": null,
"transcript": "ENST00000590965.1",
"protein_id": "ENSP00000466361.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "n.34-598A>G",
"hgvs_p": null,
"transcript": "ENST00000588691.1",
"protein_id": "ENSP00000465041.1",
"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": 281,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000588691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.*333A>G",
"hgvs_p": null,
"transcript": "ENST00000587649.1",
"protein_id": "ENSP00000465745.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"hgvs_c": "c.*181A>G",
"hgvs_p": null,
"transcript": "ENST00000591113.1",
"protein_id": "ENSP00000465847.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591113.1"
}
],
"gene_symbol": "UBALD1",
"gene_hgnc_id": 29576,
"dbsnp": "rs754785592",
"frequency_reference_population": 0.000038120463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000387469,
"gnomad_genomes_af": 0.0000329064,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16483914852142334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.532,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145253.3",
"gene_symbol": "UBALD1",
"hgnc_id": 29576,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Met173Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}