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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: 1-90007683-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=90007683&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 90007683,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182976.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "NM_182976.4",
"protein_id": "NP_892021.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 582,
"cds_start": 548,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 9729,
"mane_select": "ENST00000340281.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182976.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "ENST00000340281.9",
"protein_id": "ENSP00000340796.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 582,
"cds_start": 548,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 9729,
"mane_select": "NM_182976.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340281.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Ser94Asn",
"transcript": "ENST00000370447.3",
"protein_id": "ENSP00000359476.2",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 493,
"cds_start": 281,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 9433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370447.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "n.152-2405G>A",
"hgvs_p": null,
"transcript": "ENST00000394583.7",
"protein_id": "ENSP00000378084.3",
"transcript_support_level": 1,
"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": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394583.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "ENST00000918480.1",
"protein_id": "ENSP00000588539.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 596,
"cds_start": 548,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918480.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "ENST00000902216.1",
"protein_id": "ENSP00000572275.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 591,
"cds_start": 548,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902216.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "ENST00000902217.1",
"protein_id": "ENSP00000572276.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 574,
"cds_start": 548,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902217.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "ENST00000918481.1",
"protein_id": "ENSP00000588540.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 550,
"cds_start": 548,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918481.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Ser95Asn",
"transcript": "ENST00000902215.1",
"protein_id": "ENSP00000572274.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 494,
"cds_start": 284,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902215.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Ser94Asn",
"transcript": "NM_001320185.2",
"protein_id": "NP_001307114.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 493,
"cds_start": 281,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 9462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320185.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Ser63Asn",
"transcript": "ENST00000971818.1",
"protein_id": "ENSP00000641877.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 462,
"cds_start": 188,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971818.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "XM_047418427.1",
"protein_id": "XP_047274383.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 550,
"cds_start": 548,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 9633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418427.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn",
"transcript": "XM_047418429.1",
"protein_id": "XP_047274385.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 392,
"cds_start": 548,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 9502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.-3-2405G>A",
"hgvs_p": null,
"transcript": "NM_181781.4",
"protein_id": "NP_861446.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181781.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"hgvs_c": "c.-3-2405G>A",
"hgvs_p": null,
"transcript": "XM_047418437.1",
"protein_id": "XP_047274393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418437.1"
}
],
"gene_symbol": "ZNF326",
"gene_hgnc_id": 14104,
"dbsnp": null,
"frequency_reference_population": 7.314754e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.31475e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07905203104019165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.446,
"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": 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_182976.4",
"gene_symbol": "ZNF326",
"hgnc_id": 14104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Ser183Asn"
}
],
"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
}