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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: 10-119676965-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119676965&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM1",
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BAG3",
"hgnc_id": 939,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 3,
"score": -1,
"transcript": "NM_004281.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000295480",
"hgnc_id": null,
"hgvs_c": "n.348C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000730378.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3,BS2",
"acmg_score": -1,
"allele_count_reference_population": 28,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7631,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "10",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1HH,Myofibrillar myopathy 6,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.781529426574707,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004281.4",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369085.8",
"protein_coding": true,
"protein_id": "NP_004272.2",
"strand": true,
"transcript": "NM_004281.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000369085.8",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004281.4",
"protein_coding": true,
"protein_id": "ENSP00000358081.4",
"strand": true,
"transcript": "ENST00000369085.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889977.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560036.1",
"strand": true,
"transcript": "ENST00000889977.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 574,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889978.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560037.1",
"strand": true,
"transcript": "ENST00000889978.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 574,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889980.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560039.1",
"strand": true,
"transcript": "ENST00000889980.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 573,
"aa_ref": "E",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951434.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Glu469Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621493.1",
"strand": true,
"transcript": "ENST00000951434.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 441,
"aa_ref": "E",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889979.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560038.1",
"strand": true,
"transcript": "ENST00000889979.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 440,
"aa_ref": "E",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889981.1",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560040.1",
"strand": true,
"transcript": "ENST00000889981.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 574,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005270287.2",
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270344.1",
"strand": true,
"transcript": "XM_005270287.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 688,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000730378.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000295480",
"hgvs_c": "n.348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000730378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000730380.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000295480",
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000730380.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000730381.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000295480",
"hgvs_c": "n.280C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000730381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000730382.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000295480",
"hgvs_c": "n.266C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000730382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000730379.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000295480",
"hgvs_c": "n.280-5963C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000730379.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs778496291",
"effect": "missense_variant",
"frequency_reference_population": 0.000019153602,
"gene_hgnc_id": 939,
"gene_symbol": "BAG3",
"gnomad_exomes_ac": 28,
"gnomad_exomes_af": 0.0000191536,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Cardiovascular phenotype|Myofibrillar myopathy 6;Dilated cardiomyopathy 1HH|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.478,
"pos": 119676965,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.692,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004281.4"
}
]
}