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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: 19-49832371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49832371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MED25",
"hgnc_id": 28845,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001378355.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 747,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_030973.4",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312865.10",
"protein_coding": true,
"protein_id": "NP_112235.2",
"strand": true,
"transcript": "NM_030973.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 747,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000312865.10",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030973.4",
"protein_coding": true,
"protein_id": "ENSP00000326767.5",
"strand": true,
"transcript": "ENST00000312865.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "L",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1605,
"cds_start": 799,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538643.5",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437496.1",
"strand": true,
"transcript": "ENST00000538643.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 252,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": null,
"cds_end": null,
"cds_length": 760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595185.5",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.688+2423C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470027.1",
"strand": true,
"transcript": "ENST00000595185.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000929730.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599789.1",
"strand": true,
"transcript": "ENST00000929730.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 796,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378355.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365284.1",
"strand": true,
"transcript": "NM_001378355.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 796,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000593767.3",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470692.3",
"strand": true,
"transcript": "ENST00000593767.3",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000929728.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599787.1",
"strand": true,
"transcript": "ENST00000929728.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "L",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1468,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861903.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Leu490Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531962.1",
"strand": true,
"transcript": "ENST00000861903.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 745,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861902.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531961.1",
"strand": true,
"transcript": "ENST00000861902.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 745,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000929729.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599788.1",
"strand": true,
"transcript": "ENST00000929729.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 735,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1402,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861899.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Leu468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531958.1",
"strand": true,
"transcript": "ENST00000861899.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 727,
"aa_ref": "L",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1378,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861900.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Leu460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531959.1",
"strand": true,
"transcript": "ENST00000861900.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1438,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861904.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531963.1",
"strand": true,
"transcript": "ENST00000861904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 717,
"aa_ref": "L",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1348,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861901.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Leu450Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531960.1",
"strand": true,
"transcript": "ENST00000861901.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 714,
"aa_ref": "L",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1339,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861905.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Leu447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531964.1",
"strand": true,
"transcript": "ENST00000861905.1",
"transcript_support_level": null
},
{
"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": 504,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000599722.1",
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"hgvs_c": "n.460C>T",
"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": "ENST00000599722.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs148214958",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 28845,
"gene_symbol": "MED25",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.869,
"pos": 49832371,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001378355.1"
}
]
}