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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: 6-42964464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42964464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PEX6",
"hgnc_id": 8859,
"hgvs_c": "c.2814G>A",
"hgvs_p": "p.Glu938Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_000287.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 844833,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "Heimler syndrome 2,Peroxisome biogenesis disorder,Peroxisome biogenesis disorder 4A (Zellweger),Peroxisome biogenesis disorder 4B,Zellweger spectrum disorders,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 980,
"aa_ref": "E",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2814,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000287.4",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2814G>A",
"hgvs_p": "p.Glu938Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304611.13",
"protein_coding": true,
"protein_id": "NP_000278.3",
"strand": false,
"transcript": "NM_000287.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 980,
"aa_ref": "E",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2814,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000304611.13",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2814G>A",
"hgvs_p": "p.Glu938Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000287.4",
"protein_coding": true,
"protein_id": "ENSP00000303511.8",
"strand": false,
"transcript": "ENST00000304611.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 738,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2217,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000244546.4",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.*350G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000244546.4",
"strand": false,
"transcript": "ENST00000244546.4",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 993,
"aa_ref": "E",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 2918,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2853,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858656.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2853G>A",
"hgvs_p": "p.Glu951Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528715.1",
"strand": false,
"transcript": "ENST00000858656.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 987,
"aa_ref": "E",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2835,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858658.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2835G>A",
"hgvs_p": "p.Glu945Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528717.1",
"strand": false,
"transcript": "ENST00000858658.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 980,
"aa_ref": "E",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2814,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000970120.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2814G>A",
"hgvs_p": "p.Glu938Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640179.1",
"strand": false,
"transcript": "ENST00000970120.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 954,
"aa_ref": "E",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2736,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858654.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Glu912Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528713.1",
"strand": false,
"transcript": "ENST00000858654.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 952,
"aa_ref": "E",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2730,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858653.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2730G>A",
"hgvs_p": "p.Glu910Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528712.1",
"strand": false,
"transcript": "ENST00000858653.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 892,
"aa_ref": "E",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2550,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001316313.2",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2550G>A",
"hgvs_p": "p.Glu850Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303242.1",
"strand": false,
"transcript": "NM_001316313.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 892,
"aa_ref": "E",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": 2615,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2550,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858651.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2550G>A",
"hgvs_p": "p.Glu850Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528710.1",
"strand": false,
"transcript": "ENST00000858651.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 892,
"aa_ref": "E",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 2643,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2550,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858652.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2550G>A",
"hgvs_p": "p.Glu850Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528711.1",
"strand": false,
"transcript": "ENST00000858652.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 874,
"aa_ref": "E",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2625,
"cds_start": 2496,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970122.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2496G>A",
"hgvs_p": "p.Glu832Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640181.1",
"strand": false,
"transcript": "ENST00000970122.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 873,
"aa_ref": "E",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2493,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970123.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640182.1",
"strand": false,
"transcript": "ENST00000970123.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 866,
"aa_ref": "E",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858657.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2472G>A",
"hgvs_p": "p.Glu824Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528716.1",
"strand": false,
"transcript": "ENST00000858657.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 794,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970121.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2256G>A",
"hgvs_p": "p.Glu752Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640180.1",
"strand": false,
"transcript": "ENST00000970121.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2157,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858655.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2157G>A",
"hgvs_p": "p.Glu719Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528714.1",
"strand": false,
"transcript": "ENST00000858655.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 952,
"aa_ref": "E",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 2761,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2730,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011514661.3",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.2730G>A",
"hgvs_p": "p.Glu910Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512963.1",
"strand": false,
"transcript": "XM_011514661.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 600,
"aa_ref": "E",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1674,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047418872.1",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "c.1674G>A",
"hgvs_p": "p.Glu558Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274828.1",
"strand": false,
"transcript": "XM_047418872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NR_133009.2",
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"hgvs_c": "n.2598G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_133009.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1129186",
"effect": "synonymous_variant",
"frequency_reference_population": 0.5240178,
"gene_hgnc_id": 8859,
"gene_symbol": "PEX6",
"gnomad_exomes_ac": 760079,
"gnomad_exomes_af": 0.520492,
"gnomad_exomes_homalt": 202631,
"gnomad_genomes_ac": 84754,
"gnomad_genomes_af": 0.557915,
"gnomad_genomes_homalt": 24877,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 227508,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Peroxisome biogenesis disorder 4A (Zellweger)|not provided|Peroxisome biogenesis disorder|Heimler syndrome 2|Zellweger spectrum disorders|Peroxisome biogenesis disorder 4B",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.52,
"pos": 42964464,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000287.4"
}
]
}