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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: 2-190759793-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190759793&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190759793,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000674692.1",
"consequences": [
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.1247+299T>C",
"hgvs_p": null,
"transcript": "ENST00000674692.1",
"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": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000674692.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.195-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000676095.2",
"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": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000676095.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "ENST00000676284.2",
"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": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000676284.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.634+299T>C",
"hgvs_p": null,
"transcript": "ENST00000676386.1",
"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": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000676386.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.466+299T>C",
"hgvs_p": null,
"transcript": "ENST00000691949.3",
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000691949.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.286-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772360.1",
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772360.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.181-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772361.1",
"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": 487,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772361.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.252-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772362.1",
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772362.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.228-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772363.1",
"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": 462,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772363.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.239-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772364.1",
"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": 424,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772364.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.150-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772365.1",
"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": 467,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.85-20462T>C",
"hgvs_p": null,
"transcript": "ENST00000772366.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772366.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772367.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772367.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.407+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772368.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000228509",
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"hgvs_c": "n.429+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772369.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772369.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772370.1",
"protein_id": null,
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000228509",
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"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772371.1",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000772371.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.416+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772373.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 668,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000772373.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228509",
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"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772374.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000228509",
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"hgvs_c": "n.71-20462T>C",
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"transcript": "ENST00000772375.1",
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"biotype": "pseudogene",
"feature": "ENST00000772375.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"hgvs_c": "n.418+299T>C",
"hgvs_p": null,
"transcript": "ENST00000772378.1",
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"biotype": "pseudogene",
"feature": "ENST00000772378.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124907946",
"gene_hgnc_id": null,
"hgvs_c": "n.410+299T>C",
"hgvs_p": null,
"transcript": "XR_007087780.1",
"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": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007087780.1"
}
],
"gene_symbol": "ENSG00000228509",
"gene_hgnc_id": null,
"dbsnp": "rs1476896",
"frequency_reference_population": 0.26042077,
"hom_count_reference_population": 5509,
"allele_count_reference_population": 39585,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.260421,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 39585,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5509,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000674692.1",
"gene_symbol": "ENSG00000228509",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1247+299T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007087780.1",
"gene_symbol": "LOC124907946",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.410+299T>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
}