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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: 3-10078186-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10078186&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCD2",
"hgnc_id": 3585,
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_033084.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 115,
"alphamissense_prediction": null,
"alphamissense_score": 0.0958,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "FANCD2-related disorder,Fanconi anemia,Fanconi anemia complementation group D2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17252513766288757,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001018115.3",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000675286.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 3058,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000287647.7",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 3126,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000419585.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000421731.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "n.1462C>G",
"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": "A",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "P",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5162,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3037,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915105.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.3037C>G",
"hgvs_p": "p.Pro1013Ala",
"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": "A",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_033084.6",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4840,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 4377,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001374254.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001319984.2",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915101.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "P",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5114,
"cdna_start": 3052,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915096.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2962C>G",
"hgvs_p": "p.Pro988Ala",
"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": "A",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "P",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2956,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915113.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2956C>G",
"hgvs_p": "p.Pro986Ala",
"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": "A",
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"aa_length": 1439,
"aa_ref": "P",
"aa_start": 977,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 4320,
"cds_start": 2929,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915095.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2929C>G",
"hgvs_p": "p.Pro977Ala",
"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": "A",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915104.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": 3170,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915106.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 3166,
"cds_end": null,
"cds_length": 4296,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915108.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Pro989Ala",
"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": "A",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "P",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 3076,
"cds_end": null,
"cds_length": 4272,
"cds_start": 2881,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915110.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Pro961Ala",
"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
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2924,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001374253.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2854C>G",
"hgvs_p": "p.Pro952Ala",
"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": "A",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 3055,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000915109.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2854C>G",
"hgvs_p": "p.Pro952Ala",
"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": "A",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 4244,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000676013.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.2854C>G",
"hgvs_p": "p.Pro952Ala",
"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": "A",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 4242,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 29,
"exon_rank_end": null,
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