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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: 3-10078158-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10078158&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCD2",
"hgnc_id": 3585,
"hgvs_c": "c.2937G>A",
"hgvs_p": "p.Met979Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_033084.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1873,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group D2",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11174124479293823,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3007,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3007,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 3098,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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.1434G>A",
"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": "I",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "M",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5162,
"cdna_start": 3079,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3009,
"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.3009G>A",
"hgvs_p": "p.Met1003Ile",
"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": "I",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 3007,
"cds_end": null,
"cds_length": 4416,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4840,
"cdna_start": 3007,
"cds_end": null,
"cds_length": 4377,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 3160,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 3014,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "M",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5114,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2934,
"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.2934G>A",
"hgvs_p": "p.Met978Ile",
"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": "I",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "M",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 2988,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2928,
"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.2928G>A",
"hgvs_p": "p.Met976Ile",
"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": "I",
"aa_end": null,
"aa_length": 1439,
"aa_ref": "M",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 4320,
"cds_start": 2901,
"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.2901G>A",
"hgvs_p": "p.Met967Ile",
"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": "I",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
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"aa_length": 1438,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": 3142,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 4296,
"cds_start": 2937,
"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.2937G>A",
"hgvs_p": "p.Met979Ile",
"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": "I",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 3048,
"cds_end": null,
"cds_length": 4272,
"cds_start": 2853,
"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.2853G>A",
"hgvs_p": "p.Met951Ile",
"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": "I",
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"aa_length": 1414,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2826,
"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.2826G>A",
"hgvs_p": "p.Met942Ile",
"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": "I",
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"aa_length": 1414,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2826,
"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.2826G>A",
"hgvs_p": "p.Met942Ile",
"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": "I",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "M",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 2916,
"cds_end": null,
"cds_length": 4244,
"cds_start": 2826,
"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.2826G>A",
"hgvs_p": "p.Met942Ile",
"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": "I",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "M",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 4242,
"cds_start": 2937,
"consequences": [
"missense_variant"
],
"exon_count": 41,
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