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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: 1-183243227-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183243227&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183243227,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_005562.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3411delA",
"hgvs_p": "p.Gln1137fs",
"transcript": "NM_005562.3",
"protein_id": "NP_005553.2",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264144.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005562.3"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3411delA",
"hgvs_p": "p.Gln1137fs",
"transcript": "ENST00000264144.5",
"protein_id": "ENSP00000264144.4",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005562.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264144.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3435delA",
"hgvs_p": "p.Gln1145fs",
"transcript": "ENST00000914499.1",
"protein_id": "ENSP00000584558.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914499.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3288delA",
"hgvs_p": "p.Gln1096fs",
"transcript": "ENST00000878927.1",
"protein_id": "ENSP00000548986.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878927.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3285delA",
"hgvs_p": "p.Gln1095fs",
"transcript": "ENST00000878928.1",
"protein_id": "ENSP00000548987.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878928.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3222delA",
"hgvs_p": "p.Gln1074fs",
"transcript": "ENST00000878925.1",
"protein_id": "ENSP00000548984.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878925.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3192delA",
"hgvs_p": "p.Gln1064fs",
"transcript": "ENST00000971656.1",
"protein_id": "ENSP00000641715.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3192,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971656.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3165delA",
"hgvs_p": "p.Gln1055fs",
"transcript": "ENST00000878926.1",
"protein_id": "ENSP00000548985.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3165,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878926.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3123delA",
"hgvs_p": "p.Gln1041fs",
"transcript": "ENST00000914498.1",
"protein_id": "ENSP00000584557.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3123,
"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": "ENST00000914498.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.2976delA",
"hgvs_p": "p.Gln992fs",
"transcript": "ENST00000971655.1",
"protein_id": "ENSP00000641714.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2976,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971655.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.2862delA",
"hgvs_p": "p.Gln954fs",
"transcript": "ENST00000971657.1",
"protein_id": "ENSP00000641716.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2862,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971657.1"
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3328+2838delA",
"hgvs_p": null,
"transcript": "XM_047420358.1",
"protein_id": "XP_047276314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420358.1"
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "c.3328+2838delA",
"hgvs_p": null,
"transcript": "XM_047420361.1",
"protein_id": "XP_047276317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": null,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"hgvs_c": "n.-206delA",
"hgvs_p": null,
"transcript": "ENST00000476255.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476255.1"
}
],
"gene_symbol": "LAMC2",
"gene_hgnc_id": 6493,
"dbsnp": "rs1553267885",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.853,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005562.3",
"gene_symbol": "LAMC2",
"hgnc_id": 6493,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3411delA",
"hgvs_p": "p.Gln1137fs"
}
],
"clinvar_disease": "Junctional epidermolysis bullosa gravis of Herlitz",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Junctional epidermolysis bullosa gravis of Herlitz",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}