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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: 18-6943249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6943249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6943249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005559.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8998G>A",
"hgvs_p": "p.Ala3000Thr",
"transcript": "NM_005559.4",
"protein_id": "NP_005550.2",
"transcript_support_level": null,
"aa_start": 3000,
"aa_end": null,
"aa_length": 3075,
"cds_start": 8998,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8998G>A",
"hgvs_p": "p.Ala3000Thr",
"transcript": "ENST00000389658.4",
"protein_id": "ENSP00000374309.3",
"transcript_support_level": 1,
"aa_start": 3000,
"aa_end": null,
"aa_length": 3075,
"cds_start": 8998,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9091G>A",
"hgvs_p": "p.Ala3031Thr",
"transcript": "ENST00000940203.1",
"protein_id": "ENSP00000610262.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3106,
"cds_start": 9091,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9028G>A",
"hgvs_p": "p.Ala3010Thr",
"transcript": "ENST00000940200.1",
"protein_id": "ENSP00000610259.1",
"transcript_support_level": null,
"aa_start": 3010,
"aa_end": null,
"aa_length": 3085,
"cds_start": 9028,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8860G>A",
"hgvs_p": "p.Ala2954Thr",
"transcript": "ENST00000940202.1",
"protein_id": "ENSP00000610261.1",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 3029,
"cds_start": 8860,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8146G>A",
"hgvs_p": "p.Ala2716Thr",
"transcript": "ENST00000940201.1",
"protein_id": "ENSP00000610260.1",
"transcript_support_level": null,
"aa_start": 2716,
"aa_end": null,
"aa_length": 2791,
"cds_start": 8146,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.2405G>A",
"hgvs_p": null,
"transcript": "ENST00000488064.5",
"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": "ENST00000488064.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.1886G>A",
"hgvs_p": null,
"transcript": "ENST00000492048.5",
"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": "ENST00000492048.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.10013G>A",
"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": "rs369082897",
"frequency_reference_population": 0.000076205724,
"hom_count_reference_population": 0,
"allele_count_reference_population": 123,
"gnomad_exomes_af": 0.0000814013,
"gnomad_genomes_af": 0.0000262885,
"gnomad_exomes_ac": 119,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14921161532402039,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.0764,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.988,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005559.4",
"gene_symbol": "LAMA1",
"hgnc_id": 6481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8998G>A",
"hgvs_p": "p.Ala3000Thr"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}