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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: 19-44812385-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44812385&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44812385,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005581.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "NM_005581.5",
"protein_id": "NP_005572.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 628,
"cds_start": 427,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270233.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005581.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "ENST00000270233.12",
"protein_id": "ENSP00000270233.5",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 628,
"cds_start": 427,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005581.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270233.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "ENST00000940906.1",
"protein_id": "ENSP00000610965.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 625,
"cds_start": 427,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940906.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.379G>C",
"hgvs_p": "p.Val127Leu",
"transcript": "ENST00000852016.1",
"protein_id": "ENSP00000522075.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 612,
"cds_start": 379,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852016.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "ENST00000852014.1",
"protein_id": "ENSP00000522073.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 601,
"cds_start": 427,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852014.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "ENST00000852017.1",
"protein_id": "ENSP00000522076.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 600,
"cds_start": 427,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852017.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "NM_001013257.2",
"protein_id": "NP_001013275.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 588,
"cds_start": 427,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013257.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu",
"transcript": "ENST00000611077.5",
"protein_id": "ENSP00000481153.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 588,
"cds_start": 427,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611077.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Val122Leu",
"transcript": "ENST00000591520.6",
"protein_id": "ENSP00000467100.2",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 285,
"cds_start": 364,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591520.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.205-865G>C",
"hgvs_p": null,
"transcript": "ENST00000852015.1",
"protein_id": "ENSP00000522074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": null,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "n.422G>C",
"hgvs_p": null,
"transcript": "ENST00000588603.1",
"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": "ENST00000588603.1"
}
],
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"dbsnp": "rs778465310",
"frequency_reference_population": 6.841312e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84131e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35094189643859863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.299,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.011,
"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": 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_005581.5",
"gene_symbol": "BCAM",
"hgnc_id": 6722,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Val143Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}