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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: 8-67064402-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67064402&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "CSPP1",
"hgnc_id": 26193,
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001382391.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "COPS5",
"hgnc_id": 2240,
"hgvs_c": "n.237G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000517793.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382391.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000678616.1",
"protein_coding": true,
"protein_id": "NP_001369320.1",
"strand": true,
"transcript": "NM_001382391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000678616.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382391.1",
"protein_coding": true,
"protein_id": "ENSP00000504733.1",
"strand": true,
"transcript": "ENST00000678616.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "L",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 63,
"cds_end": null,
"cds_length": 3747,
"cds_start": 4,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000262210.11",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Leu2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262210.6",
"strand": true,
"transcript": "ENST00000262210.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382391.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000678616.1",
"protein_coding": true,
"protein_id": "NP_001369320.1",
"strand": true,
"transcript": "NM_001382391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000678616.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382391.1",
"protein_coding": true,
"protein_id": "ENSP00000504733.1",
"strand": true,
"transcript": "ENST00000678616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 3639,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853676.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523735.1",
"strand": true,
"transcript": "ENST00000853676.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": null,
"cds_end": null,
"cds_length": 3600,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001363131.2",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350060.1",
"strand": true,
"transcript": "NM_001363131.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": null,
"cds_end": null,
"cds_length": 3600,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675955.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501676.1",
"strand": true,
"transcript": "ENST00000675955.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1179,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": null,
"cds_end": null,
"cds_length": 3540,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953972.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624031.1",
"strand": true,
"transcript": "ENST00000953972.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4664,
"cdna_start": null,
"cds_end": null,
"cds_length": 3486,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001363132.2",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350061.1",
"strand": true,
"transcript": "NM_001363132.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": null,
"cds_end": null,
"cds_length": 3486,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675869.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502747.1",
"strand": true,
"transcript": "ENST00000675869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1134,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001363133.2",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350062.1",
"strand": true,
"transcript": "NM_001363133.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675306.2",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502421.1",
"strand": true,
"transcript": "ENST00000675306.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953971.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-105C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624030.1",
"strand": true,
"transcript": "ENST00000953971.1",
"transcript_support_level": null
},
{
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"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679226.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503601.1",
"strand": true,
"transcript": "ENST00000679226.1",
"transcript_support_level": null
},
{
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"aa_length": 1008,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4399,
"cdna_start": null,
"cds_end": null,
"cds_length": 3027,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000677619.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504522.1",
"strand": true,
"transcript": "ENST00000677619.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": null,
"cds_end": null,
"cds_length": 3027,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914796.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-105C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584855.1",
"strand": true,
"transcript": "ENST00000914796.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": null,
"cds_end": null,
"cds_length": 2874,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914797.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584856.1",
"strand": true,
"transcript": "ENST00000914797.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": null,
"cds_end": null,
"cds_length": 2532,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000678017.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.-670C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504394.1",
"strand": true,
"transcript": "ENST00000678017.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "L",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5011,
"cdna_start": 41,
"cds_end": null,
"cds_length": 3789,
"cds_start": 4,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000676605.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Leu2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503605.1",
"strand": true,
"transcript": "ENST00000676605.1",
"transcript_support_level": null
},
{
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