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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: 7-94511914-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94511914&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94511914,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_022900.5",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "NM_022900.5",
"protein_id": "NP_075051.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297273.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022900.5"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000297273.9",
"protein_id": "ENSP00000297273.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022900.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297273.9"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000919855.1",
"protein_id": "ENSP00000589914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919855.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000919856.1",
"protein_id": "ENSP00000589915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919856.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000964615.1",
"protein_id": "ENSP00000634674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": null,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964615.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000964616.1",
"protein_id": "ENSP00000634675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964616.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000851489.1",
"protein_id": "ENSP00000521548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851489.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000851488.1",
"protein_id": "ENSP00000521547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": null,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851488.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.-490+1697A>G",
"hgvs_p": null,
"transcript": "NM_001363426.1",
"protein_id": "NP_001350355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363426.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.-439+1697A>G",
"hgvs_p": null,
"transcript": "NM_001363428.1",
"protein_id": "NP_001350357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363428.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000919854.1",
"protein_id": "ENSP00000589913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
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"cds_length": 1836,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000919854.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.-671+1697A>G",
"hgvs_p": null,
"transcript": "NM_001363427.1",
"protein_id": "NP_001350356.1",
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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": "protein_coding",
"feature": "NM_001363427.1"
},
{
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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,
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"gene_symbol": "CASD1",
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"hgvs_c": "c.-75+2615A>G",
"hgvs_p": null,
"transcript": "ENST00000447923.5",
"protein_id": "ENSP00000396261.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000447923.5"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CASD1",
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"hgvs_c": "c.133+1697A>G",
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"transcript": "XM_011516495.3",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null,
"transcript": "XM_006716093.4",
"protein_id": "XP_006716156.2",
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "CASD1",
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"hgvs_c": "n.147+1697A>G",
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"biotype": "pseudogene",
"feature": "ENST00000417387.1"
},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "n.133+1697A>G",
"hgvs_p": null,
"transcript": "ENST00000443644.1",
"protein_id": "ENSP00000389718.1",
"transcript_support_level": 5,
"aa_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443644.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309657",
"gene_hgnc_id": null,
"hgvs_c": "n.151-30795T>C",
"hgvs_p": null,
"transcript": "ENST00000842810.1",
"protein_id": null,
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"feature": "ENST00000842810.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "ENSG00000309657",
"gene_hgnc_id": null,
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},
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],
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"intron_rank": 1,
"intron_rank_end": null,
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"hgvs_p": null,
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"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007060139.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"hgvs_c": "n.409+1697A>G",
"hgvs_p": null,
"transcript": "XR_007060140.1",
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060140.1"
}
],
"gene_symbol": "CASD1",
"gene_hgnc_id": 16014,
"dbsnp": "rs2374735",
"frequency_reference_population": 0.5137647,
"hom_count_reference_population": 21240,
"allele_count_reference_population": 78121,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.513765,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 78121,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 21240,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.373,
"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": "NM_022900.5",
"gene_symbol": "CASD1",
"hgnc_id": 16014,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.133+1697A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000842810.1",
"gene_symbol": "ENSG00000309657",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.151-30795T>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
}