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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: 5-132642264-CT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132642264&ref=CT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RAD50",
"hgnc_id": 9816,
"hgvs_c": "c.3839_3840delCTinsGC",
"hgvs_p": "p.Ser1280Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005732.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000283782",
"hgnc_id": null,
"hgvs_c": "c.3542_3543delCTinsGC",
"hgvs_p": "p.Ser1181Cys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000638452.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "TH2LCRR",
"hgnc_id": 40495,
"hgvs_c": "n.122_123delAGinsGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000458509.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "S",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 4187,
"cds_end": null,
"cds_length": 3939,
"cds_start": 3839,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005732.4",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.3839_3840delCTinsGC",
"hgvs_p": "p.Ser1280Cys",
"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": "C",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "S",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 4187,
"cds_end": null,
"cds_length": 3939,
"cds_start": 3839,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378823.8",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.3839_3840delCTinsGC",
"hgvs_p": "p.Ser1280Cys",
"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": "C",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "S",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7893,
"cdna_start": 4078,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3542,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638452.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.3542_3543delCTinsGC",
"hgvs_p": "p.Ser1181Cys",
"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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 407,
"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": "ENST00000458509.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.122_123delAGinsGC",
"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": "ENST00000458509.1",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000533482.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*3465_*3466delCTinsGC",
"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": 25,
"exon_rank_end": null,
"feature": "ENST00000533482.5",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "n.*3465_*3466delCTinsGC",
"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": "C",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "S",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7956,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3542,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638568.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.3542_3543delCTinsGC",
"hgvs_p": "p.Ser1181Cys",
"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": "C",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "S",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8032,
"cdna_start": 4217,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3542,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640655.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "c.3542_3543delCTinsGC",
"hgvs_p": "p.Ser1181Cys",
"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": "C",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "S",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 3724,
"cds_end": null,
"cds_length": 3483,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918903.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.3383_3384delCTinsGC",
"hgvs_p": "p.Ser1128Cys",
"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": "C",
"aa_end": null,
"aa_length": 257,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 675,
"cds_end": null,
"cds_length": 774,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651249.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.674_675delCTinsGC",
"hgvs_p": "p.Ser225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498257.1",
"strand": true,
"transcript": "ENST00000651249.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455677.1",
"gene_hgnc_id": 9816,
"gene_symbol": "RAD50",
"hgvs_c": "c.387-741_387-740delCTinsGC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396860.1",
"strand": true,
"transcript": "ENST00000455677.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 472,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000435042.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.112_113delAGinsGC",
"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": "ENST00000435042.1",
"transcript_support_level": 5
},
{
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000638504.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "n.3447_3448delCTinsGC",
"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": "ENST00000638504.1",
"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": 26,
"exon_rank_end": null,
"feature": "ENST00000639899.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283782",
"hgvs_c": "n.4358_4359delCTinsGC",
"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,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000814678.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.186_187delAGinsGC",
"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": "ENST00000814678.1",
"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": 639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000814683.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.478_479delAGinsGC",
"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": "ENST00000814683.1",
"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": 340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000814684.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.186_187delAGinsGC",
"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": "ENST00000814684.1",
"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": 407,
"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": "NR_132125.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.122_123delAGinsGC",
"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": "NR_132125.1",
"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": 1228,
"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": "ENST00000417516.2",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.475-4000_475-3999delAGinsGC",
"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": "ENST00000417516.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000814671.1",
"gene_hgnc_id": 40495,
"gene_symbol": "TH2LCRR",
"hgvs_c": "n.239-4000_239-3999delAGinsGC",
"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": "ENST00000814671.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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