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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: 5-132595041-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132595041&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"PM2",
"BP4",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RAD50",
"hgnc_id": 9816,
"hgvs_c": "c.1966C>A",
"hgvs_p": "p.Arg656Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -8,
"transcript": "NM_005732.4",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"PM2",
"BP4",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000283782",
"hgnc_id": null,
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Arg557Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -8,
"transcript": "ENST00000638452.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4,BP6_Very_Strong,BP7",
"acmg_score": -8,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.12999999523162842,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 3939,
"cds_start": 1966,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005732.4",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.1966C>A",
"hgvs_p": "p.Arg656Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378823.8",
"protein_coding": true,
"protein_id": "NP_005723.2",
"strand": true,
"transcript": "NM_005732.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 3939,
"cds_start": 1966,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000378823.8",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.1966C>A",
"hgvs_p": "p.Arg656Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005732.4",
"protein_coding": true,
"protein_id": "ENSP00000368100.4",
"strand": true,
"transcript": "ENST00000378823.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "R",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7893,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1669,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000638452.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Arg557Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492349.2",
"strand": true,
"transcript": "ENST00000638452.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000533482.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*1592C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431225.1",
"strand": true,
"transcript": "ENST00000533482.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000533482.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*1592C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431225.1",
"strand": true,
"transcript": "ENST00000533482.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "R",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7956,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1669,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000638568.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Arg557Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491158.2",
"strand": true,
"transcript": "ENST00000638568.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "R",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8032,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1669,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000640655.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Arg557Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491596.2",
"strand": true,
"transcript": "ENST00000640655.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 3483,
"cds_start": 1510,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918903.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.1510C>A",
"hgvs_p": "p.Arg504Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588962.1",
"strand": true,
"transcript": "ENST00000918903.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2683,
"cds_start": 1999,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000652485.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Arg667Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498973.1",
"strand": true,
"transcript": "ENST00000652485.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 659,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 1982,
"cds_start": 1783,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000453394.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.1783C>A",
"hgvs_p": "p.Arg595Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400049.1",
"strand": true,
"transcript": "ENST00000453394.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000423956.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*152C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390971.1",
"strand": true,
"transcript": "ENST00000423956.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8173,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000639899.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "n.2485C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639899.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000651658.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.2509C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000651723.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*2049C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498237.1",
"strand": true,
"transcript": "ENST00000651723.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000423956.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*152C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390971.1",
"strand": true,
"transcript": "ENST00000423956.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000651723.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*2049C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498237.1",
"strand": true,
"transcript": "ENST00000651723.1",
"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": 7262,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638504.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "n.1480-63C>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000638504.1",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651160.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*16-63C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498829.1",
"strand": true,
"transcript": "ENST00000651160.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652016.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*89-63C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498267.1",
"strand": true,
"transcript": "ENST00000652016.1",
"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": 473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496204.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.-181C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496204.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs749466673",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000012419491,
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85766e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657255,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.064,
"pos": 132595041,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_005732.4"
}
]
}