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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: 1-109715037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109715037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109715037,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000851.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn",
"transcript": "NM_000851.4",
"protein_id": "NP_000842.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 218,
"cds_start": 451,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256593.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000851.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn",
"transcript": "ENST00000256593.8",
"protein_id": "ENSP00000256593.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 218,
"cds_start": 451,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000851.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256593.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Asp177Asn",
"transcript": "ENST00000878690.1",
"protein_id": "ENSP00000548749.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 244,
"cds_start": 529,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878690.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Asp177Asn",
"transcript": "ENST00000966870.1",
"protein_id": "ENSP00000636929.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 244,
"cds_start": 529,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966870.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn",
"transcript": "ENST00000369812.6",
"protein_id": "ENSP00000358827.5",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 218,
"cds_start": 451,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369812.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Asp150Asn",
"transcript": "ENST00000966873.1",
"protein_id": "ENSP00000636932.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 217,
"cds_start": 448,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966873.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn",
"transcript": "ENST00000647711.1",
"protein_id": "ENSP00000496849.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 188,
"cds_start": 451,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647711.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Asp104Asn",
"transcript": "ENST00000966874.1",
"protein_id": "ENSP00000636933.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 171,
"cds_start": 310,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966874.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "ENST00000966872.1",
"protein_id": "ENSP00000636931.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 169,
"cds_start": 304,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966872.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000878688.1",
"protein_id": "ENSP00000548747.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 157,
"cds_start": 268,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878688.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Asp43Asn",
"transcript": "ENST00000966871.1",
"protein_id": "ENSP00000636930.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 110,
"cds_start": 127,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966871.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Asp40Asn",
"transcript": "ENST00000648974.1",
"protein_id": "ENSP00000498086.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 109,
"cds_start": 118,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648974.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn",
"transcript": "XM_005270784.5",
"protein_id": "XP_005270841.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 218,
"cds_start": 451,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270784.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Asp47Asn",
"transcript": "XM_005270785.5",
"protein_id": "XP_005270842.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 114,
"cds_start": 139,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270785.5"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.360+1276G>A",
"hgvs_p": null,
"transcript": "ENST00000878689.1",
"protein_id": "ENSP00000548748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878689.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "c.37-2300G>A",
"hgvs_p": null,
"transcript": "ENST00000878691.1",
"protein_id": "ENSP00000548750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "n.1233G>A",
"hgvs_p": null,
"transcript": "ENST00000369813.5",
"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": "ENST00000369813.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "n.422G>A",
"hgvs_p": null,
"transcript": "ENST00000483153.1",
"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": "ENST00000483153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "n.1494G>A",
"hgvs_p": null,
"transcript": "ENST00000492718.1",
"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": "ENST00000492718.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "n.82+2689G>A",
"hgvs_p": null,
"transcript": "ENST00000429410.2",
"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": "pseudogene",
"feature": "ENST00000429410.2"
}
],
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"dbsnp": "rs781717042",
"frequency_reference_population": 0.000039646304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000410427,
"gnomad_genomes_af": 0.0000262498,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2203802764415741,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.422,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000851.4",
"gene_symbol": "GSTM5",
"hgnc_id": 4637,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Asp151Asn"
}
],
"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
}