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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: 7-108107020-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108107020&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 108107020,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000388781.8",
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "NM_007356.3",
"protein_id": "NP_031382.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1761,
"cds_start": -4,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": "ENST00000388781.8",
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "ENST00000388781.8",
"protein_id": "ENSP00000373433.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1761,
"cds_start": -4,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": "NM_007356.3",
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "ENST00000205386.8",
"protein_id": "ENSP00000205386.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1761,
"cds_start": -4,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5857,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "ENST00000418464.1",
"protein_id": "ENSP00000402353.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2600,
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "NM_001318046.2",
"protein_id": "NP_001304975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1761,
"cds_start": -4,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "NM_001318047.2",
"protein_id": "NP_001304976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1101,
"cds_start": -4,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "NM_001318048.2",
"protein_id": "NP_001304977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2606,
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "n.676-448G>T",
"hgvs_p": null,
"transcript": "ENST00000475469.1",
"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": 3670,
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_011515975.2",
"protein_id": "XP_011514277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": -4,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6421,
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_017011879.2",
"protein_id": "XP_016867368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1753,
"cds_start": -4,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5378,
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_011515978.2",
"protein_id": "XP_011514280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1723,
"cds_start": -4,
"cds_end": null,
"cds_length": 5172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5581,
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_011515979.3",
"protein_id": "XP_011514281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1703,
"cds_start": -4,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5687,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_017011880.2",
"protein_id": "XP_016867369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "c.592-448G>T",
"hgvs_p": null,
"transcript": "XM_011515980.3",
"protein_id": "XP_011514282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": -4,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4871,
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "n.681-448G>T",
"hgvs_p": null,
"transcript": "XR_927421.2",
"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": 6338,
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"hgvs_c": "n.681-448G>T",
"hgvs_p": null,
"transcript": "XR_927422.2",
"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": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMB4",
"gene_hgnc_id": 6491,
"dbsnp": "rs425623",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.059,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000388781.8",
"gene_symbol": "LAMB4",
"hgnc_id": 6491,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592-448G>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
}