← Back to variant description
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: 16-67195890-ACAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67195890&ref=ACAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67195890,
"ref": "ACAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001950.4",
"consequences": [
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.956_958delGCA",
"hgvs_p": "p.Ser319del",
"transcript": "NM_001950.4",
"protein_id": "NP_001941.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 413,
"cds_start": 956,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379378.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001950.4"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.956_958delGCA",
"hgvs_p": "p.Ser319del",
"transcript": "ENST00000379378.8",
"protein_id": "ENSP00000368686.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 413,
"cds_start": 956,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001950.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379378.8"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.956_958delGCA",
"hgvs_p": "p.Ser319del",
"transcript": "ENST00000914909.1",
"protein_id": "ENSP00000584968.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 459,
"cds_start": 956,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914909.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.971_973delGCA",
"hgvs_p": "p.Ser324del",
"transcript": "ENST00000957228.1",
"protein_id": "ENSP00000627287.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 418,
"cds_start": 971,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957228.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.953_955delGCA",
"hgvs_p": "p.Ser318del",
"transcript": "ENST00000902239.1",
"protein_id": "ENSP00000572298.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 412,
"cds_start": 953,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902239.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.953_955delGCA",
"hgvs_p": "p.Ser318del",
"transcript": "ENST00000914914.1",
"protein_id": "ENSP00000584973.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 412,
"cds_start": 953,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914914.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.950_952delGCA",
"hgvs_p": "p.Ser317del",
"transcript": "ENST00000957227.1",
"protein_id": "ENSP00000627286.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 411,
"cds_start": 950,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957227.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.941_943delGCA",
"hgvs_p": "p.Ser314del",
"transcript": "ENST00000914913.1",
"protein_id": "ENSP00000584972.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 408,
"cds_start": 941,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914913.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.929_931delGCA",
"hgvs_p": "p.Ser310del",
"transcript": "ENST00000902238.1",
"protein_id": "ENSP00000572297.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 404,
"cds_start": 929,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902238.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.956_958delGCA",
"hgvs_p": "p.Ser319del",
"transcript": "ENST00000914910.1",
"protein_id": "ENSP00000584969.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 398,
"cds_start": 956,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914910.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.824_826delGCA",
"hgvs_p": "p.Ser275del",
"transcript": "ENST00000914912.1",
"protein_id": "ENSP00000584971.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 369,
"cds_start": 824,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914912.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.704_706delGCA",
"hgvs_p": "p.Ser235del",
"transcript": "ENST00000914911.1",
"protein_id": "ENSP00000584970.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 329,
"cds_start": 704,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914911.1"
},
{
"aa_ref": "SN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "c.176_178delGCA",
"hgvs_p": "p.Ser59del",
"transcript": "ENST00000565226.1",
"protein_id": "ENSP00000458706.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 143,
"cds_start": 176,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.1535_1537delGCA",
"hgvs_p": null,
"transcript": "ENST00000567007.5",
"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": "ENST00000567007.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.279_281delGCA",
"hgvs_p": null,
"transcript": "ENST00000567228.1",
"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": "ENST00000567228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.*406_*408delGCA",
"hgvs_p": null,
"transcript": "ENST00000568839.5",
"protein_id": "ENSP00000458082.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.*384_*386delGCA",
"hgvs_p": null,
"transcript": "ENST00000569573.1",
"protein_id": "ENSP00000457239.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.*406_*408delGCA",
"hgvs_p": null,
"transcript": "ENST00000568839.5",
"protein_id": "ENSP00000458082.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"hgvs_c": "n.*384_*386delGCA",
"hgvs_p": null,
"transcript": "ENST00000569573.1",
"protein_id": "ENSP00000457239.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569573.1"
}
],
"gene_symbol": "E2F4",
"gene_hgnc_id": 3118,
"dbsnp": "rs3830472",
"frequency_reference_population": 0.022642858,
"hom_count_reference_population": 8,
"allele_count_reference_population": 28311,
"gnomad_exomes_af": 0.0252333,
"gnomad_genomes_af": 0.00364574,
"gnomad_exomes_ac": 27764,
"gnomad_genomes_ac": 547,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.771,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001950.4",
"gene_symbol": "E2F4",
"hgnc_id": 3118,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.956_958delGCA",
"hgvs_p": "p.Ser319del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}