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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: 18-6985271-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6985271&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6985271,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005559.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Ala1876Pro",
"transcript": "NM_005559.4",
"protein_id": "NP_005550.2",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 3075,
"cds_start": 5626,
"cds_end": null,
"cds_length": 9228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005559.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Ala1876Pro",
"transcript": "ENST00000389658.4",
"protein_id": "ENSP00000374309.3",
"transcript_support_level": 1,
"aa_start": 1876,
"aa_end": null,
"aa_length": 3075,
"cds_start": 5626,
"cds_end": null,
"cds_length": 9228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005559.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389658.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.5719G>C",
"hgvs_p": "p.Ala1907Pro",
"transcript": "ENST00000940203.1",
"protein_id": "ENSP00000610262.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 3106,
"cds_start": 5719,
"cds_end": null,
"cds_length": 9321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940203.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Ala1876Pro",
"transcript": "ENST00000940200.1",
"protein_id": "ENSP00000610259.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 3085,
"cds_start": 5626,
"cds_end": null,
"cds_length": 9258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940200.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.5488G>C",
"hgvs_p": "p.Ala1830Pro",
"transcript": "ENST00000940202.1",
"protein_id": "ENSP00000610261.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 3029,
"cds_start": 5488,
"cds_end": null,
"cds_length": 9090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940202.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.4774G>C",
"hgvs_p": "p.Ala1592Pro",
"transcript": "ENST00000940201.1",
"protein_id": "ENSP00000610260.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 2791,
"cds_start": 4774,
"cds_end": null,
"cds_length": 8376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940201.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.6641G>C",
"hgvs_p": null,
"transcript": "ENST00000579014.5",
"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": "retained_intron",
"feature": "ENST00000579014.5"
}
],
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"dbsnp": "rs11664063",
"frequency_reference_population": 0.000004337196,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410445,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2698362171649933,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.4509,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005559.4",
"gene_symbol": "LAMA1",
"hgnc_id": 6481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Ala1876Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}