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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: 17-40140772-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40140772&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40140772,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007359.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "NM_007359.5",
"protein_id": "NP_031385.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264645.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007359.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000264645.12",
"protein_id": "ENSP00000264645.6",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007359.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264645.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "n.455C>T",
"hgvs_p": null,
"transcript": "ENST00000418132.7",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000418132.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.-742C>T",
"hgvs_p": null,
"transcript": "XM_047435624.1",
"protein_id": "XP_047291580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435624.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000971362.1",
"protein_id": "ENSP00000641421.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 708,
"cds_start": 224,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971362.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000971363.1",
"protein_id": "ENSP00000641422.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 708,
"cds_start": 224,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971363.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853392.1",
"protein_id": "ENSP00000523451.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853392.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853393.1",
"protein_id": "ENSP00000523452.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853393.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853396.1",
"protein_id": "ENSP00000523455.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853396.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853405.1",
"protein_id": "ENSP00000523464.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853405.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853406.1",
"protein_id": "ENSP00000523465.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853406.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000971365.1",
"protein_id": "ENSP00000641424.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971365.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853398.1",
"protein_id": "ENSP00000523457.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853398.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853400.1",
"protein_id": "ENSP00000523459.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853400.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853404.1",
"protein_id": "ENSP00000523463.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853404.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000971364.1",
"protein_id": "ENSP00000641423.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 701,
"cds_start": 224,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971364.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853397.1",
"protein_id": "ENSP00000523456.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853397.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853403.1",
"protein_id": "ENSP00000523462.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853403.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000971367.1",
"protein_id": "ENSP00000641426.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971367.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853402.1",
"protein_id": "ENSP00000523461.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 683,
"cds_start": 224,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853402.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000932300.1",
"protein_id": "ENSP00000602359.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 683,
"cds_start": 224,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932300.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000853401.1",
"protein_id": "ENSP00000523460.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 670,
"cds_start": 224,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "ENST00000853401.1"
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"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Likely_benign",
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"effects": [
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{
"score": 2,
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}