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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: 2-190930490-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190930490&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190930490,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000320717.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "NM_014905.5",
"protein_id": "NP_055720.3",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 669,
"cds_start": 1479,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000320717.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000320717.8",
"protein_id": "ENSP00000317379.3",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 669,
"cds_start": 1479,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_014905.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000338435.9",
"protein_id": "ENSP00000340689.4",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 598,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "NM_001437282.1",
"protein_id": "NP_001424211.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 661,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000412247.2",
"protein_id": "ENSP00000403329.2",
"transcript_support_level": 3,
"aa_start": 493,
"aa_end": null,
"aa_length": 661,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "NM_001256310.2",
"protein_id": "NP_001243239.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 598,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "NM_001437283.1",
"protein_id": "NP_001424212.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 559,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.807C>G",
"hgvs_p": "p.Pro269Pro",
"transcript": "XM_047443957.1",
"protein_id": "XP_047299913.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 445,
"cds_start": 807,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 4348,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Pro135Pro",
"transcript": "XM_047443958.1",
"protein_id": "XP_047299914.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 311,
"cds_start": 405,
"cds_end": null,
"cds_length": 936,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Pro135Pro",
"transcript": "XM_047443960.1",
"protein_id": "XP_047299916.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 311,
"cds_start": 405,
"cds_end": null,
"cds_length": 936,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.533C>G",
"hgvs_p": null,
"transcript": "ENST00000409626.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*635C>G",
"hgvs_p": null,
"transcript": "ENST00000417154.6",
"protein_id": "ENSP00000388990.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.521C>G",
"hgvs_p": null,
"transcript": "ENST00000457316.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*832C>G",
"hgvs_p": null,
"transcript": "ENST00000706565.1",
"protein_id": "ENSP00000516450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.-7C>G",
"hgvs_p": null,
"transcript": "ENST00000409428.5",
"protein_id": "ENSP00000387177.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.-7C>G",
"hgvs_p": null,
"transcript": "ENST00000409215.5",
"protein_id": "ENSP00000387135.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*635C>G",
"hgvs_p": null,
"transcript": "ENST00000417154.6",
"protein_id": "ENSP00000388990.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*832C>G",
"hgvs_p": null,
"transcript": "ENST00000706565.1",
"protein_id": "ENSP00000516450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.2239-21490G>C",
"hgvs_p": null,
"transcript": "ENST00000673816.1",
"protein_id": "ENSP00000501127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"dbsnp": "rs113769409",
"frequency_reference_population": 0.000029801597,
"hom_count_reference_population": 1,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000267402,
"gnomad_genomes_af": 0.0000591428,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"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": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.161,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000320717.8",
"gene_symbol": "GLS",
"hgnc_id": 4331,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000673816.1",
"gene_symbol": "STAT1",
"hgnc_id": 11362,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2239-21490G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}