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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: 8-123022709-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123022709&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 123022709,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_024295.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "NM_024295.6",
"protein_id": "NP_077271.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 251,
"cds_start": 428,
"cds_end": null,
"cds_length": 756,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "ENST00000259512.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024295.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "ENST00000259512.9",
"protein_id": "ENSP00000259512.3",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 251,
"cds_start": 428,
"cds_end": null,
"cds_length": 756,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "NM_024295.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259512.9"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "ENST00000940123.1",
"protein_id": "ENSP00000610182.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 244,
"cds_start": 428,
"cds_end": null,
"cds_length": 735,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940123.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.401C>G",
"hgvs_p": "p.Ser134*",
"transcript": "ENST00000887846.1",
"protein_id": "ENSP00000557905.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 242,
"cds_start": 401,
"cds_end": null,
"cds_length": 729,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887846.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "NM_001134671.3",
"protein_id": "NP_001128143.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 231,
"cds_start": 428,
"cds_end": null,
"cds_length": 696,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134671.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "ENST00000405944.7",
"protein_id": "ENSP00000384289.3",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 231,
"cds_start": 428,
"cds_end": null,
"cds_length": 696,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405944.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*",
"transcript": "ENST00000887845.1",
"protein_id": "ENSP00000557904.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 214,
"cds_start": 428,
"cds_end": null,
"cds_length": 645,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887845.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75*",
"transcript": "ENST00000940121.1",
"protein_id": "ENSP00000610180.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 183,
"cds_start": 224,
"cds_end": null,
"cds_length": 552,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940121.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.128C>G",
"hgvs_p": "p.Ser43*",
"transcript": "NM_001330601.2",
"protein_id": "NP_001317530.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 151,
"cds_start": 128,
"cds_end": null,
"cds_length": 456,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330601.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.128C>G",
"hgvs_p": "p.Ser43*",
"transcript": "NM_001363963.2",
"protein_id": "NP_001350892.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 151,
"cds_start": 128,
"cds_end": null,
"cds_length": 456,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363963.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.128C>G",
"hgvs_p": "p.Ser43*",
"transcript": "ENST00000519018.5",
"protein_id": "ENSP00000430086.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 151,
"cds_start": 128,
"cds_end": null,
"cds_length": 456,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519018.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.128C>G",
"hgvs_p": "p.Ser43*",
"transcript": "ENST00000523036.1",
"protein_id": "ENSP00000429199.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 151,
"cds_start": 128,
"cds_end": null,
"cds_length": 456,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.266-1210C>G",
"hgvs_p": null,
"transcript": "ENST00000887847.1",
"protein_id": "ENSP00000557906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.357+1004C>G",
"hgvs_p": null,
"transcript": "ENST00000887848.1",
"protein_id": "ENSP00000557907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.154-1210C>G",
"hgvs_p": null,
"transcript": "ENST00000419562.6",
"protein_id": "ENSP00000389965.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419562.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "c.154-1210C>G",
"hgvs_p": null,
"transcript": "ENST00000940122.1",
"protein_id": "ENSP00000610181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"hgvs_c": "n.278C>G",
"hgvs_p": null,
"transcript": "ENST00000524119.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5513,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253607",
"gene_hgnc_id": null,
"hgvs_c": "n.104-7521G>C",
"hgvs_p": null,
"transcript": "ENST00000521258.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902013",
"gene_hgnc_id": null,
"hgvs_c": "n.104-7521G>C",
"hgvs_p": null,
"transcript": "XR_007061083.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 630,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061083.1"
}
],
"gene_symbol": "DERL1",
"gene_hgnc_id": 28454,
"dbsnp": "rs776797591",
"frequency_reference_population": 6.840685e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84068e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.576,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024295.6",
"gene_symbol": "DERL1",
"hgnc_id": 28454,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000521258.1",
"gene_symbol": "ENSG00000253607",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104-7521G>C",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007061083.1",
"gene_symbol": "LOC124902013",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104-7521G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}