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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: 11-837582-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=837582&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 837582,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000397420.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "NM_004357.5",
"protein_id": "NP_004348.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "ENST00000397420.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000397420.9",
"protein_id": "ENSP00000380565.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "NM_004357.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000322008.9",
"protein_id": "ENSP00000324101.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000397421.5",
"protein_id": "ENSP00000380566.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "NM_001039490.2",
"protein_id": "NP_001034579.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "NM_139029.2",
"protein_id": "NP_620598.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "NM_139030.4",
"protein_id": "NP_620599.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000528011.2",
"protein_id": "ENSP00000432990.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 251,
"cds_start": 579,
"cds_end": null,
"cds_length": 756,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000524748.6",
"protein_id": "ENSP00000431403.2",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 229,
"cds_start": 579,
"cds_end": null,
"cds_length": 691,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Gly168Gly",
"transcript": "ENST00000529810.5",
"protein_id": "ENSP00000432258.1",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 177,
"cds_start": 504,
"cds_end": null,
"cds_length": 535,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly",
"transcript": "XM_024448780.2",
"protein_id": "XP_024304548.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 579,
"cds_end": null,
"cds_length": 762,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "n.579G>A",
"hgvs_p": null,
"transcript": "ENST00000530726.5",
"protein_id": "ENSP00000432385.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "n.1009G>A",
"hgvs_p": null,
"transcript": "ENST00000532045.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "n.675G>A",
"hgvs_p": null,
"transcript": "ENST00000532075.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2L",
"gene_hgnc_id": 9199,
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"transcript": "ENST00000534030.1",
"protein_id": "ENSP00000432807.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "n.1036G>A",
"hgvs_p": null,
"transcript": "ENST00000645878.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2L",
"gene_hgnc_id": 9199,
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"transcript": "ENST00000534030.1",
"protein_id": "ENSP00000432807.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.*38G>A",
"hgvs_p": null,
"transcript": "ENST00000527341.5",
"protein_id": "ENSP00000436591.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000526693.5",
"protein_id": "ENSP00000435054.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000530320.5",
"protein_id": "ENSP00000433787.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD151",
"gene_hgnc_id": 1630,
"dbsnp": "rs1130663",
"frequency_reference_population": 0.6812691,
"hom_count_reference_population": 379900,
"allele_count_reference_population": 1098462,
"gnomad_exomes_af": 0.684295,
"gnomad_genomes_af": 0.652199,
"gnomad_exomes_ac": 999333,
"gnomad_genomes_ac": 99129,
"gnomad_exomes_homalt": 346811,
"gnomad_genomes_homalt": 33089,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.092,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397420.9",
"gene_symbol": "CD151",
"hgnc_id": 1630,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gly193Gly"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000534030.1",
"gene_symbol": "POLR2L",
"hgnc_id": 9199,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.*134C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}