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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: 15-75358495-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75358495&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75358495,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000267978.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Asp790Asp",
"transcript": "NM_006715.4",
"protein_id": "NP_006706.2",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": "ENST00000267978.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Asp790Asp",
"transcript": "ENST00000267978.10",
"protein_id": "ENSP00000267978.4",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": "NM_006715.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Asp807Asp",
"transcript": "ENST00000565683.5",
"protein_id": "ENSP00000457788.1",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Asp790Asp",
"transcript": "ENST00000569482.5",
"protein_id": "ENSP00000455998.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Asp691Asp",
"transcript": "ENST00000563622.5",
"protein_id": "ENSP00000454589.1",
"transcript_support_level": 1,
"aa_start": 691,
"aa_end": null,
"aa_length": 941,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.2601C>T",
"hgvs_p": null,
"transcript": "ENST00000563441.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Asp807Asp",
"transcript": "NM_001256494.2",
"protein_id": "NP_001243423.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Asp790Asp",
"transcript": "NM_001256495.2",
"protein_id": "NP_001243424.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Asp691Asp",
"transcript": "NM_001256496.2",
"protein_id": "NP_001243425.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 941,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.720C>T",
"hgvs_p": null,
"transcript": "ENST00000563368.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.436C>T",
"hgvs_p": null,
"transcript": "ENST00000564570.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.4060C>T",
"hgvs_p": null,
"transcript": "ENST00000564785.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.356C>T",
"hgvs_p": null,
"transcript": "ENST00000566099.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.838C>T",
"hgvs_p": null,
"transcript": "ENST00000567163.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.125C>T",
"hgvs_p": null,
"transcript": "ENST00000567360.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.933C>T",
"hgvs_p": null,
"transcript": "ENST00000569176.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.*148C>T",
"hgvs_p": null,
"transcript": "ENST00000566013.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"dbsnp": "rs1128933",
"frequency_reference_population": 0.46133396,
"hom_count_reference_population": 178303,
"allele_count_reference_population": 744235,
"gnomad_exomes_af": 0.470907,
"gnomad_genomes_af": 0.369379,
"gnomad_exomes_ac": 688048,
"gnomad_genomes_ac": 56187,
"gnomad_exomes_homalt": 165750,
"gnomad_genomes_homalt": 12553,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000267978.10",
"gene_symbol": "MAN2C1",
"hgnc_id": 6827,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Asp790Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}