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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: 16-372234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=372234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 372234,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021259.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690His",
"transcript": "NM_021259.3",
"protein_id": "NP_067082.2",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 771,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431232.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021259.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690His",
"transcript": "ENST00000431232.7",
"protein_id": "ENSP00000401338.2",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 771,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021259.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431232.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753His",
"transcript": "ENST00000946607.1",
"protein_id": "ENSP00000616666.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 834,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946607.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697His",
"transcript": "ENST00000930879.1",
"protein_id": "ENSP00000600938.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 778,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930879.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683His",
"transcript": "ENST00000930880.1",
"protein_id": "ENSP00000600939.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 764,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930880.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675His",
"transcript": "ENST00000930881.1",
"protein_id": "ENSP00000600940.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 756,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930881.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673His",
"transcript": "ENST00000946605.1",
"protein_id": "ENSP00000616664.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 754,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946605.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Arg657His",
"transcript": "ENST00000946604.1",
"protein_id": "ENSP00000616663.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 738,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946604.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1922G>A",
"hgvs_p": "p.Arg641His",
"transcript": "ENST00000946606.1",
"protein_id": "ENSP00000616665.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 722,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946606.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Arg575His",
"transcript": "ENST00000946608.1",
"protein_id": "ENSP00000616667.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 656,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946608.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000250930.7",
"protein_id": "ENSP00000250930.3",
"transcript_support_level": 2,
"aa_start": 497,
"aa_end": null,
"aa_length": 578,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250930.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000424078.5",
"protein_id": "ENSP00000397620.1",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 238,
"cds_start": 470,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424078.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "XM_047434413.1",
"protein_id": "XP_047290369.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 578,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.*308G>A",
"hgvs_p": null,
"transcript": "ENST00000448854.1",
"protein_id": "ENSP00000401931.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448854.1"
}
],
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"dbsnp": "rs545669418",
"frequency_reference_population": 0.000053347627,
"hom_count_reference_population": 1,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000575365,
"gnomad_genomes_af": 0.000013147,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5970867276191711,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.511,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.76,
"phylop100way_prediction": "Pathogenic",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_021259.3",
"gene_symbol": "PGAP6",
"hgnc_id": 17205,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690His"
}
],
"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
}