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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: 18-6943176-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6943176&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6943176,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_005559.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9067+4T>C",
"hgvs_p": null,
"transcript": "NM_005559.4",
"protein_id": "NP_005550.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3075,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9067+4T>C",
"hgvs_p": null,
"transcript": "ENST00000389658.4",
"protein_id": "ENSP00000374309.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3075,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 63,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9160+4T>C",
"hgvs_p": null,
"transcript": "ENST00000940203.1",
"protein_id": "ENSP00000610262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3106,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.9097+4T>C",
"hgvs_p": null,
"transcript": "ENST00000940200.1",
"protein_id": "ENSP00000610259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3085,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8929+4T>C",
"hgvs_p": null,
"transcript": "ENST00000940202.1",
"protein_id": "ENSP00000610261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3029,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "c.8215+4T>C",
"hgvs_p": null,
"transcript": "ENST00000940201.1",
"protein_id": "ENSP00000610260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2791,
"cds_start": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.2474+4T>C",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.1955+4T>C",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "LAMA1",
"gene_hgnc_id": 6481,
"hgvs_c": "n.10082+4T>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": "rs8091658",
"frequency_reference_population": 0.0005236894,
"hom_count_reference_population": 2,
"allele_count_reference_population": 845,
"gnomad_exomes_af": 0.000284698,
"gnomad_genomes_af": 0.00281577,
"gnomad_exomes_ac": 416,
"gnomad_genomes_ac": 429,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.381,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000100830407180143,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005559.4",
"gene_symbol": "LAMA1",
"hgnc_id": 6481,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9067+4T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}