← 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: 14-72975718-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=72975718&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 72975718,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021260.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr",
"transcript": "NM_021260.4",
"protein_id": "NP_067083.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 777,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000556143.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021260.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr",
"transcript": "ENST00000556143.6",
"protein_id": "ENSP00000450742.1",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 777,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556143.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1597G>T",
"hgvs_p": "p.Asp533Tyr",
"transcript": "ENST00000318876.9",
"protein_id": "ENSP00000326921.5",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 763,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318876.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "ENST00000555072.1",
"protein_id": "ENSP00000452232.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555072.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr",
"transcript": "ENST00000553891.5",
"protein_id": "ENSP00000452442.1",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 789,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553891.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1657G>T",
"hgvs_p": "p.Asp553Tyr",
"transcript": "ENST00000864218.1",
"protein_id": "ENSP00000534277.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 783,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864218.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr",
"transcript": "ENST00000864219.1",
"protein_id": "ENSP00000534278.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 777,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864219.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1606G>T",
"hgvs_p": "p.Asp536Tyr",
"transcript": "ENST00000864220.1",
"protein_id": "ENSP00000534279.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 766,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864220.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1597G>T",
"hgvs_p": "p.Asp533Tyr",
"transcript": "NM_001281734.2",
"protein_id": "NP_001268663.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 763,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281734.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Asp528Tyr",
"transcript": "ENST00000864217.1",
"protein_id": "ENSP00000534276.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 758,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864217.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "ENST00000864216.1",
"protein_id": "ENSP00000534275.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 708,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864216.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "NM_001281735.1",
"protein_id": "NP_001268664.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281735.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "NM_178441.2",
"protein_id": "NP_848535.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178441.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "ENST00000394207.6",
"protein_id": "ENSP00000377757.2",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394207.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "XM_017021373.2",
"protein_id": "XP_016876862.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021373.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Asp132Tyr",
"transcript": "XM_047431482.1",
"protein_id": "XP_047287438.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 362,
"cds_start": 394,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431482.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "n.257G>T",
"hgvs_p": null,
"transcript": "ENST00000554145.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000554145.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"hgvs_c": "n.224G>T",
"hgvs_p": null,
"transcript": "ENST00000556040.1",
"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": "ENST00000556040.1"
}
],
"gene_symbol": "ZFYVE1",
"gene_hgnc_id": 13180,
"dbsnp": "rs1893152060",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7512871623039246,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.046,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021260.4",
"gene_symbol": "ZFYVE1",
"hgnc_id": 13180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr"
}
],
"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
}