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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: 1-183243171-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183243171&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "LAMC2",
"hgnc_id": 6493,
"hgvs_c": "c.3353dupA",
"hgvs_p": "p.Leu1120fs",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005562.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "E",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 3443,
"cds_end": null,
"cds_length": 3582,
"cds_start": 3354,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_005562.3",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3353dupA",
"hgvs_p": "p.Leu1120fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264144.5",
"protein_coding": true,
"protein_id": "NP_005553.2",
"strand": true,
"transcript": "NM_005562.3",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "E",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 3443,
"cds_end": null,
"cds_length": 3582,
"cds_start": 3354,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000264144.5",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3353dupA",
"hgvs_p": "p.Leu1120fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005562.3",
"protein_coding": true,
"protein_id": "ENSP00000264144.4",
"strand": true,
"transcript": "ENST00000264144.5",
"transcript_support_level": 1
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "E",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3378,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000914499.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3377dupA",
"hgvs_p": "p.Leu1128fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584558.1",
"strand": true,
"transcript": "ENST00000914499.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "E",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3231,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000878927.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3230dupA",
"hgvs_p": "p.Leu1079fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548986.1",
"strand": true,
"transcript": "ENST00000878927.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "E",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 3330,
"cds_end": null,
"cds_length": 3456,
"cds_start": 3228,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000878928.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3227dupA",
"hgvs_p": "p.Leu1078fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548987.1",
"strand": true,
"transcript": "ENST00000878928.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "E",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 3283,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3165,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000878925.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3164dupA",
"hgvs_p": "p.Leu1057fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548984.1",
"strand": true,
"transcript": "ENST00000878925.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "E",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 3431,
"cds_end": null,
"cds_length": 3363,
"cds_start": 3135,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971656.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3134dupA",
"hgvs_p": "p.Leu1047fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641715.1",
"strand": true,
"transcript": "ENST00000971656.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "E",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3108,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000878926.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3107dupA",
"hgvs_p": "p.Leu1038fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548985.1",
"strand": true,
"transcript": "ENST00000878926.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "E",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3066,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000914498.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3065dupA",
"hgvs_p": "p.Leu1024fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584557.1",
"strand": true,
"transcript": "ENST00000914498.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "E",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4783,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3147,
"cds_start": 2919,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000971655.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.2918dupA",
"hgvs_p": "p.Leu975fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641714.1",
"strand": true,
"transcript": "ENST00000971655.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "E",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 2895,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2805,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000971657.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.2804dupA",
"hgvs_p": "p.Leu937fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641716.1",
"strand": true,
"transcript": "ENST00000971657.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": null,
"cds_end": null,
"cds_length": 3576,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420358.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3328+2780dupA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276314.1",
"strand": true,
"transcript": "XM_047420358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1182,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": 3549,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420361.1",
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"hgvs_c": "c.3328+2780dupA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276317.1",
"strand": true,
"transcript": "XM_047420361.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6493,
"gene_symbol": "LAMC2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.941,
"pos": 183243169,
"ref": "AG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005562.3"
}
]
}