← 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: 5-80477313-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80477313&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80477313,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000505560.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "NM_001284236.3",
"protein_id": "NP_001271165.2",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4739,
"cdna_end": null,
"cdna_length": 10805,
"mane_select": "ENST00000505560.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "ENST00000505560.5",
"protein_id": "ENSP00000426848.1",
"transcript_support_level": 1,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4739,
"cdna_end": null,
"cdna_length": 10805,
"mane_select": "NM_001284236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "ENST00000338008.9",
"protein_id": "ENSP00000337159.5",
"transcript_support_level": 1,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4736,
"cdna_end": null,
"cdna_length": 6773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "ENST00000510158.5",
"protein_id": "ENSP00000423663.1",
"transcript_support_level": 1,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4853,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "NM_001105251.4",
"protein_id": "NP_001098721.2",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4813,
"cdna_end": null,
"cdna_length": 10879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "NM_001349434.2",
"protein_id": "NP_001336363.2",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4735,
"cdna_end": null,
"cdna_length": 10801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "NM_014733.6",
"protein_id": "NP_055548.4",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4685,
"cdna_end": null,
"cdna_length": 10751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "XM_005248632.5",
"protein_id": "XP_005248689.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4867,
"cdna_end": null,
"cdna_length": 10933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "XM_017010091.2",
"protein_id": "XP_016865580.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4867,
"cdna_end": null,
"cdna_length": 10933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "XM_017010092.3",
"protein_id": "XP_016865581.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4921,
"cdna_end": null,
"cdna_length": 10987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "XM_024446270.2",
"protein_id": "XP_024302038.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4789,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn",
"transcript": "XM_047417941.1",
"protein_id": "XP_047273897.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 6767,
"cdna_end": null,
"cdna_length": 12833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.1954C>A",
"hgvs_p": null,
"transcript": "ENST00000511829.5",
"protein_id": null,
"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": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.3338C>A",
"hgvs_p": null,
"transcript": "ENST00000512907.5",
"protein_id": null,
"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": 5143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.5016C>A",
"hgvs_p": null,
"transcript": "NR_146172.2",
"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": 11082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.4790C>A",
"hgvs_p": null,
"transcript": "NR_146173.2",
"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": 10856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.4961C>A",
"hgvs_p": null,
"transcript": "NR_146174.2",
"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": 11027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM151B-DT",
"gene_hgnc_id": 55578,
"hgvs_c": "n.258+8153G>T",
"hgvs_p": null,
"transcript": "ENST00000666568.1",
"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": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.*313C>A",
"hgvs_p": null,
"transcript": "ENST00000513789.1",
"protein_id": "ENSP00000426500.1",
"transcript_support_level": 3,
"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": 423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"dbsnp": "rs16877836",
"frequency_reference_population": 0.0009811439,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1579,
"gnomad_exomes_af": 0.000559272,
"gnomad_genomes_af": 0.00502321,
"gnomad_exomes_ac": 815,
"gnomad_genomes_ac": 764,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0064811110496521,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1246,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000505560.5",
"gene_symbol": "ZFYVE16",
"hgnc_id": 20756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4556C>A",
"hgvs_p": "p.Thr1519Asn"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000666568.1",
"gene_symbol": "FAM151B-DT",
"hgnc_id": 55578,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.258+8153G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}