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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: 9-36193491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36193491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36193491,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000345519.10",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001833.4",
"protein_id": "NP_001824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": "ENST00000345519.10",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000345519.10",
"protein_id": "ENSP00000242284.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": "NM_001833.4",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000242285.11",
"protein_id": "ENSP00000242285.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000396603.6",
"protein_id": "ENSP00000379848.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1090,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_007096.4",
"protein_id": "NP_009027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001076677.3",
"protein_id": "NP_001070145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1132,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001184760.2",
"protein_id": "NP_001171689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1114,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000470744.5",
"protein_id": "ENSP00000419746.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1102,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001311204.2",
"protein_id": "NP_001298133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000466396.6",
"protein_id": "ENSP00000417698.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001311205.2",
"protein_id": "NP_001298134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
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"cdna_length": 958,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001184761.2",
"protein_id": "NP_001171690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
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"cds_length": 507,
"cdna_start": null,
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"cdna_length": 1073,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "NM_001184762.2",
"protein_id": "NP_001171691.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 166,
"cds_start": -4,
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"cds_length": 501,
"cdna_start": null,
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"cdna_length": 922,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000540080.5",
"protein_id": "ENSP00000437508.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.-18+2491G>A",
"hgvs_p": null,
"transcript": "NM_001311203.2",
"protein_id": "NP_001298132.1",
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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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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.-97+2218G>A",
"hgvs_p": null,
"transcript": "NM_001311206.2",
"protein_id": "NP_001298135.1",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.217+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000464497.5",
"protein_id": "ENSP00000419158.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.109+2218G>A",
"hgvs_p": null,
"transcript": "ENST00000493185.2",
"protein_id": "ENSP00000474266.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.353+2218G>A",
"hgvs_p": null,
"transcript": "NR_132349.2",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.-18+2580G>A",
"hgvs_p": null,
"transcript": "XM_017014257.2",
"protein_id": "XP_016869746.1",
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},
{
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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": 1,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.-18+2580G>A",
"hgvs_p": null,
"transcript": "XM_017014258.2",
"protein_id": "XP_016869747.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"dbsnp": "rs10972786",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.252,
"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": "ENST00000345519.10",
"gene_symbol": "CLTA",
"hgnc_id": 2090,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.217+2218G>A",
"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
}