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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: 20-62322431-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62322431&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62322431,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000252999.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr",
"transcript": "NM_005560.6",
"protein_id": "NP_005551.3",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 3695,
"cds_start": 6184,
"cds_end": null,
"cds_length": 11088,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 11426,
"mane_select": "ENST00000252999.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr",
"transcript": "ENST00000252999.7",
"protein_id": "ENSP00000252999.3",
"transcript_support_level": 1,
"aa_start": 2062,
"aa_end": null,
"aa_length": 3695,
"cds_start": 6184,
"cds_end": null,
"cds_length": 11088,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 11426,
"mane_select": "NM_005560.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr",
"transcript": "XM_006723796.4",
"protein_id": "XP_006723859.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 3700,
"cds_start": 6184,
"cds_end": null,
"cds_length": 11103,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 11441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6046G>T",
"hgvs_p": "p.Asp2016Tyr",
"transcript": "XM_011528818.3",
"protein_id": "XP_011527120.1",
"transcript_support_level": null,
"aa_start": 2016,
"aa_end": null,
"aa_length": 3654,
"cds_start": 6046,
"cds_end": null,
"cds_length": 10965,
"cdna_start": 6113,
"cdna_end": null,
"cdna_length": 11303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6046G>T",
"hgvs_p": "p.Asp2016Tyr",
"transcript": "XM_047440148.1",
"protein_id": "XP_047296104.1",
"transcript_support_level": null,
"aa_start": 2016,
"aa_end": null,
"aa_length": 3649,
"cds_start": 6046,
"cds_end": null,
"cds_length": 10950,
"cdna_start": 6113,
"cdna_end": null,
"cdna_length": 11288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.5911G>T",
"hgvs_p": "p.Asp1971Tyr",
"transcript": "XM_011528819.3",
"protein_id": "XP_011527121.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 3609,
"cds_start": 5911,
"cds_end": null,
"cds_length": 10830,
"cdna_start": 5978,
"cdna_end": null,
"cdna_length": 11168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.5911G>T",
"hgvs_p": "p.Asp1971Tyr",
"transcript": "XM_047440149.1",
"protein_id": "XP_047296105.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 3604,
"cds_start": 5911,
"cds_end": null,
"cds_length": 10815,
"cdna_start": 5978,
"cdna_end": null,
"cdna_length": 11153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr",
"transcript": "XM_047440150.1",
"protein_id": "XP_047296106.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 3510,
"cds_start": 6184,
"cds_end": null,
"cds_length": 10533,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 10661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr",
"transcript": "XM_006723798.4",
"protein_id": "XP_006723861.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2300,
"cds_start": 6184,
"cds_end": null,
"cds_length": 6903,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMA5",
"gene_hgnc_id": 6485,
"dbsnp": "rs2274934",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8626855611801147,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.1485,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.153,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000252999.7",
"gene_symbol": "LAMA5",
"hgnc_id": 6485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6184G>T",
"hgvs_p": "p.Asp2062Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}