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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: 5-41004294-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=41004294&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 41004294,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000399564.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "c.4194+52C>A",
"hgvs_p": null,
"transcript": "NM_173489.5",
"protein_id": "NP_775760.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1585,
"cds_start": -4,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": "ENST00000399564.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "c.4194+52C>A",
"hgvs_p": null,
"transcript": "ENST00000399564.5",
"protein_id": "ENSP00000382476.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1585,
"cds_start": -4,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": "NM_173489.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "c.2859+52C>A",
"hgvs_p": null,
"transcript": "ENST00000506092.6",
"protein_id": "ENSP00000441504.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": -4,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "n.3336+52C>A",
"hgvs_p": null,
"transcript": "ENST00000503890.5",
"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": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "n.3582+52C>A",
"hgvs_p": null,
"transcript": "ENST00000515297.5",
"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": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "C7",
"gene_hgnc_id": 1346,
"hgvs_c": "n.2465-11432G>T",
"hgvs_p": null,
"transcript": "ENST00000706664.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "C7",
"gene_hgnc_id": 1346,
"hgvs_c": "n.2242-11432G>T",
"hgvs_p": null,
"transcript": "ENST00000706666.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "c.4194+52C>A",
"hgvs_p": null,
"transcript": "XM_011513952.2",
"protein_id": "XP_011512254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"hgvs_c": "c.4008+52C>A",
"hgvs_p": null,
"transcript": "XM_011513953.2",
"protein_id": "XP_011512255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1523,
"cds_start": -4,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MROH2B",
"gene_hgnc_id": 26857,
"dbsnp": "rs7712140",
"frequency_reference_population": 0.8689597,
"hom_count_reference_population": 596487,
"allele_count_reference_population": 1371613,
"gnomad_exomes_af": 0.870799,
"gnomad_genomes_af": 0.85171,
"gnomad_exomes_ac": 1242056,
"gnomad_genomes_ac": 129557,
"gnomad_exomes_homalt": 541163,
"gnomad_genomes_homalt": 55324,
"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": -0.315,
"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": "ENST00000399564.5",
"gene_symbol": "MROH2B",
"hgnc_id": 26857,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4194+52C>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000706664.1",
"gene_symbol": "C7",
"hgnc_id": 1346,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2465-11432G>T",
"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
}