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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: 2-36739206-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36739206&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 36739206,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000379242.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_053276.4",
"protein_id": "NP_444506.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "ENST00000379242.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000379242.8",
"protein_id": "ENSP00000368544.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "NM_053276.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000389975.7",
"protein_id": "ENSP00000374625.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000401530.5",
"protein_id": "ENSP00000385658.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000379241.7",
"protein_id": "ENSP00000368543.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.-875-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000497382.5",
"protein_id": "ENSP00000417874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000457137.6",
"protein_id": "ENSP00000393561.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001177969.2",
"protein_id": "NP_001171440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001328661.2",
"protein_id": "NP_001315590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001177970.2",
"protein_id": "NP_001171441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001177971.2",
"protein_id": "NP_001171442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
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"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VIT",
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"hgvs_c": "c.53-3894T>C",
"hgvs_p": null,
"transcript": "ENST00000404084.5",
"protein_id": "ENSP00000384154.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001391966.1",
"protein_id": "NP_001378895.1",
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"aa_start": null,
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"aa_length": 629,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001391967.1",
"protein_id": "NP_001378896.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "VIT",
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"hgvs_c": "c.119-3894T>C",
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"transcript": "NM_001391968.1",
"protein_id": "NP_001378897.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001391969.1",
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},
{
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"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "VIT",
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"hgvs_c": "c.119-3894T>C",
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"transcript": "NM_001391970.1",
"protein_id": "NP_001378899.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "NM_001177972.3",
"protein_id": "NP_001171443.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null,
"transcript": "XM_011532906.3",
"protein_id": "XP_011531208.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124905990",
"gene_hgnc_id": null,
"hgvs_c": "n.334+25426A>G",
"hgvs_p": null,
"transcript": "XR_007086283.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"hgvs_c": "c.-796T>C",
"hgvs_p": null,
"transcript": "XM_017004327.2",
"protein_id": "XP_016859816.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "VIT",
"gene_hgnc_id": 12697,
"dbsnp": "rs10490662",
"frequency_reference_population": 0.09873566,
"hom_count_reference_population": 1578,
"allele_count_reference_population": 15025,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0987357,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15025,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1578,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.301,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379242.8",
"gene_symbol": "VIT",
"hgnc_id": 12697,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.119-3894T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007086283.1",
"gene_symbol": "LOC124905990",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.334+25426A>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
}