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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: 5-109850287-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=109850287&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 109850287,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_002372.4",
"consequences": [
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2976+2497T>G",
"hgvs_p": null,
"transcript": "NM_002372.4",
"protein_id": "NP_002363.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": null,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261483.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002372.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2976+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000261483.5",
"protein_id": "ENSP00000261483.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": null,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261483.5"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2988+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000880526.1",
"protein_id": "ENSP00000550585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880526.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2973+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000968351.1",
"protein_id": "ENSP00000638410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968351.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2970+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000880524.1",
"protein_id": "ENSP00000550583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": null,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880524.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2892+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000968353.1",
"protein_id": "ENSP00000638412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968353.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2853+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000929782.1",
"protein_id": "ENSP00000599841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": null,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929782.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2835+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000880525.1",
"protein_id": "ENSP00000550584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880525.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2793+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000880527.1",
"protein_id": "ENSP00000550586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880527.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2784+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000929783.1",
"protein_id": "ENSP00000599842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929783.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2757+2497T>G",
"hgvs_p": null,
"transcript": "ENST00000968352.1",
"protein_id": "ENSP00000638411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968352.1"
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2701-4853T>G",
"hgvs_p": null,
"transcript": "ENST00000880523.1",
"protein_id": "ENSP00000550582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": null,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880523.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2829+2497T>G",
"hgvs_p": null,
"transcript": "XM_017009472.2",
"protein_id": "XP_016864961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1095,
"cds_start": null,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009472.2"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"hgvs_c": "c.2382+2497T>G",
"hgvs_p": null,
"transcript": "XM_024446048.2",
"protein_id": "XP_024301816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446048.2"
}
],
"gene_symbol": "MAN2A1",
"gene_hgnc_id": 6824,
"dbsnp": "rs3776932",
"frequency_reference_population": 0.17907946,
"hom_count_reference_population": 3377,
"allele_count_reference_population": 27243,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.179079,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 27243,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3377,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.273,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002372.4",
"gene_symbol": "MAN2A1",
"hgnc_id": 6824,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2976+2497T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}