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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: 17-17824629-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17824629&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17824629,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000261646.11",
"consequences": [
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_004176.5",
"protein_id": "NP_004167.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": -4,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4901,
"mane_select": "ENST00000261646.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "ENST00000261646.11",
"protein_id": "ENSP00000261646.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": -4,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4901,
"mane_select": "NM_004176.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-1022A>G",
"hgvs_p": null,
"transcript": "ENST00000355815.8",
"protein_id": "ENSP00000348069.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": -4,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-1022A>G",
"hgvs_p": null,
"transcript": "NM_001005291.3",
"protein_id": "NP_001005291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": -4,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388385.1",
"protein_id": "NP_001375314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388386.1",
"protein_id": "NP_001375315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388387.1",
"protein_id": "NP_001375316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388388.1",
"protein_id": "NP_001375317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388389.1",
"protein_id": "NP_001375318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388390.1",
"protein_id": "NP_001375319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": -4,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388391.1",
"protein_id": "NP_001375320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1138,
"cds_start": -4,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388392.1",
"protein_id": "NP_001375321.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1073,
"cds_start": -4,
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"cds_length": 3222,
"cdna_start": null,
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"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "ENST00000395757.6",
"protein_id": "ENSP00000379106.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
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"cds_length": 3216,
"cdna_start": null,
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"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4108A>G",
"hgvs_p": null,
"transcript": "NM_001388393.1",
"protein_id": "NP_001375322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.92-4904A>G",
"hgvs_p": null,
"transcript": "NM_001388394.1",
"protein_id": "NP_001375323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1003,
"cds_start": -4,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
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"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.261-4108A>G",
"hgvs_p": null,
"transcript": "NR_170943.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.261-4108A>G",
"hgvs_p": null,
"transcript": "NR_170944.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.261-1022A>G",
"hgvs_p": null,
"transcript": "NR_170945.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_length": 4008,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.261-4108A>G",
"hgvs_p": null,
"transcript": "NR_170990.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"dbsnp": "rs9899634",
"frequency_reference_population": 0.0000065827585,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658276,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261646.11",
"gene_symbol": "SREBF1",
"hgnc_id": 11289,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.92-4108A>G",
"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
}