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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: 12-26938171-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26938171&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 26938171,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000544548.5",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-164+97A>G",
"hgvs_p": null,
"transcript": "ENST00000544548.5",
"protein_id": "ENSP00000446183.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "ENST00000537336.1",
"protein_id": "ENSP00000443066.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": -4,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_011520750.3",
"protein_id": "XP_011519052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2531,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_017019632.2",
"protein_id": "XP_016875121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2513,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_047429145.1",
"protein_id": "XP_047285101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2438,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_017019635.2",
"protein_id": "XP_016875124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2342,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_047429146.1",
"protein_id": "XP_047285102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+97A>G",
"hgvs_p": null,
"transcript": "XM_024449055.2",
"protein_id": "XP_024304823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "NM_018164.3",
"protein_id": "NP_060634.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": "ENST00000261191.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "ENST00000261191.12",
"protein_id": "ENSP00000261191.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": "NM_018164.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-379A>G",
"hgvs_p": null,
"transcript": "ENST00000538727.5",
"protein_id": "ENSP00000448467.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
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"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_047429144.1",
"protein_id": "XP_047285100.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_017019633.2",
"protein_id": "XP_016875122.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 687,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_017019634.2",
"protein_id": "XP_016875123.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_011520751.4",
"protein_id": "XP_011519053.1",
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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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_005253422.5",
"protein_id": "XP_005253479.1",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"intron_rank": null,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_011520752.4",
"protein_id": "XP_011519054.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
"hgvs_p": null,
"transcript": "XM_017019636.3",
"protein_id": "XP_016875125.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-387A>G",
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"transcript": "XM_047429147.1",
"protein_id": "XP_047285103.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "n.-190A>G",
"hgvs_p": null,
"transcript": "XR_007063105.1",
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"feature": null
}
],
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"dbsnp": "rs78054962",
"frequency_reference_population": 0.0058047357,
"hom_count_reference_population": 12,
"allele_count_reference_population": 886,
"gnomad_exomes_af": 0.0225564,
"gnomad_genomes_af": 0.00574614,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 874,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.523,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000544548.5",
"gene_symbol": "INTS13",
"hgnc_id": 20174,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-164+97A>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
}