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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: 3-10064848-CG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10064848&ref=CG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCD2",
"hgnc_id": 3585,
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_033084.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018115.3",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675286.1",
"protein_coding": true,
"protein_id": "NP_001018125.1",
"strand": true,
"transcript": "NM_001018115.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675286.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018115.3",
"protein_coding": true,
"protein_id": "ENSP00000502379.1",
"strand": true,
"transcript": "ENST00000675286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000287647.7",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287647.3",
"strand": true,
"transcript": "ENST00000287647.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419585.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398754.1",
"strand": true,
"transcript": "ENST00000419585.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000421731.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "n.638_639delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389936.1",
"strand": true,
"transcript": "ENST00000421731.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "P",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5162,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 4428,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915105.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2213_2214delCGinsTC",
"hgvs_p": "p.Pro738Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585164.1",
"strand": true,
"transcript": "ENST00000915105.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033084.6",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149075.2",
"strand": true,
"transcript": "NM_033084.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4840,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4377,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374254.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361183.1",
"strand": true,
"transcript": "NM_001374254.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319984.2",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306913.1",
"strand": true,
"transcript": "NM_001319984.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915101.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585160.1",
"strand": true,
"transcript": "ENST00000915101.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "P",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5114,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915096.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2138_2139delCGinsTC",
"hgvs_p": "p.Pro713Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585155.1",
"strand": true,
"transcript": "ENST00000915096.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915113.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585172.1",
"strand": true,
"transcript": "ENST00000915113.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1439,
"aa_ref": "P",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 4320,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915095.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2105_2106delCGinsTC",
"hgvs_p": "p.Pro702Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585154.1",
"strand": true,
"transcript": "ENST00000915095.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915104.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585163.1",
"strand": true,
"transcript": "ENST00000915104.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915106.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585165.1",
"strand": true,
"transcript": "ENST00000915106.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 4296,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915108.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585167.1",
"strand": true,
"transcript": "ENST00000915108.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 4272,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915110.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585169.1",
"strand": true,
"transcript": "ENST00000915110.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1414,
"aa_ref": "P",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374253.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2030_2031delCGinsTC",
"hgvs_p": "p.Pro677Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361182.1",
"strand": true,
"transcript": "NM_001374253.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915109.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2141_2142delCGinsTC",
"hgvs_p": "p.Pro714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585168.1",
"strand": true,
"transcript": "ENST00000915109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "P",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 2120,
"cds_end": null,
"cds_length": 4244,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676013.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2030_2031delCGinsTC",
"hgvs_p": "p.Pro677Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501999.1",
"strand": true,
"transcript": "ENST00000676013.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "P",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 4242,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
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