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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: 3-65589685-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=65589685&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 65589685,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000402939.7",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_001033057.2",
"protein_id": "NP_001028229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7851,
"mane_select": "ENST00000402939.7",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000402939.7",
"protein_id": "ENSP00000385450.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7851,
"mane_select": "NM_001033057.2",
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000330909.12",
"protein_id": "ENSP00000331157.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1287,
"cds_start": -4,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7415,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000483466.5",
"protein_id": "ENSP00000420323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": -4,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4791,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.-492+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000621418.4",
"protein_id": "ENSP00000477591.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": -4,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6225,
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.-492+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000611645.4",
"protein_id": "ENSP00000480920.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6398,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "n.956+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000464060.5",
"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": 2247,
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "n.954+20059T>G",
"hgvs_p": null,
"transcript": "ENST00000470990.5",
"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": 2138,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_001365903.2",
"protein_id": "NP_001352832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1289,
"cds_start": -4,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8030,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_001365904.2",
"protein_id": "NP_001352833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8027,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_015520.2",
"protein_id": "NP_056335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1287,
"cds_start": -4,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8024,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_001365905.1",
"protein_id": "NP_001352834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6261,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "NM_004742.3",
"protein_id": "NP_004733.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": -4,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6258,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.430+32287T>G",
"hgvs_p": null,
"transcript": "ENST00000497477.6",
"protein_id": "ENSP00000424369.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3555,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.70+8130T>G",
"hgvs_p": null,
"transcript": "ENST00000460329.6",
"protein_id": "ENSP00000418862.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3694,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"hgvs_c": "c.55+7996T>G",
"hgvs_p": null,
"transcript": "ENST00000463103.6",
"protein_id": "ENSP00000418177.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": -4,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAGI1",
"gene_hgnc_id": 946,
"dbsnp": "rs12635482",
"frequency_reference_population": 0.3711544,
"hom_count_reference_population": 11841,
"allele_count_reference_population": 56316,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.371154,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 56316,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11841,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"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": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.298,
"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": "ENST00000402939.7",
"gene_symbol": "MAGI1",
"hgnc_id": 946,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.430+32287T>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
}