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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: 2-215361581-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215361581&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215361581,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_212482.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7408G>C",
"hgvs_p": "p.Ala2470Pro",
"transcript": "NM_212482.4",
"protein_id": "NP_997647.2",
"transcript_support_level": null,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7408,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354785.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212482.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7408G>C",
"hgvs_p": "p.Ala2470Pro",
"transcript": "ENST00000354785.11",
"protein_id": "ENSP00000346839.4",
"transcript_support_level": 1,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7408,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212482.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354785.11"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7315G>C",
"hgvs_p": "p.Ala2439Pro",
"transcript": "ENST00000323926.10",
"protein_id": "ENSP00000323534.6",
"transcript_support_level": 1,
"aa_start": 2439,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7315,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323926.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7042G>C",
"hgvs_p": "p.Ala2348Pro",
"transcript": "ENST00000336916.8",
"protein_id": "ENSP00000338200.4",
"transcript_support_level": 1,
"aa_start": 2348,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7042,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336916.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6967G>C",
"hgvs_p": "p.Ala2323Pro",
"transcript": "ENST00000446046.5",
"protein_id": "ENSP00000410422.1",
"transcript_support_level": 1,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6967,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446046.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6865G>C",
"hgvs_p": "p.Ala2289Pro",
"transcript": "ENST00000356005.8",
"protein_id": "ENSP00000348285.4",
"transcript_support_level": 1,
"aa_start": 2289,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6865,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356005.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6778G>C",
"hgvs_p": "p.Ala2260Pro",
"transcript": "ENST00000432072.6",
"protein_id": "ENSP00000399538.2",
"transcript_support_level": 1,
"aa_start": 2260,
"aa_end": null,
"aa_length": 2267,
"cds_start": 6778,
"cds_end": null,
"cds_length": 6804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432072.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6772G>C",
"hgvs_p": "p.Ala2258Pro",
"transcript": "ENST00000443816.5",
"protein_id": "ENSP00000415018.1",
"transcript_support_level": 1,
"aa_start": 2258,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6772,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443816.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6697G>C",
"hgvs_p": "p.Ala2233Pro",
"transcript": "ENST00000421182.5",
"protein_id": "ENSP00000394423.1",
"transcript_support_level": 1,
"aa_start": 2233,
"aa_end": null,
"aa_length": 2240,
"cds_start": 6697,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421182.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6505G>C",
"hgvs_p": "p.Ala2169Pro",
"transcript": "ENST00000357867.8",
"protein_id": "ENSP00000350534.4",
"transcript_support_level": 1,
"aa_start": 2169,
"aa_end": null,
"aa_length": 2176,
"cds_start": 6505,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357867.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7402G>C",
"hgvs_p": "p.Ala2468Pro",
"transcript": "ENST00000933287.1",
"protein_id": "ENSP00000603346.1",
"transcript_support_level": null,
"aa_start": 2468,
"aa_end": null,
"aa_length": 2475,
"cds_start": 7402,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933287.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7315G>C",
"hgvs_p": "p.Ala2439Pro",
"transcript": "NM_001306129.2",
"protein_id": "NP_001293058.2",
"transcript_support_level": null,
"aa_start": 2439,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7315,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306129.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7138G>C",
"hgvs_p": "p.Ala2380Pro",
"transcript": "NM_001365517.2",
"protein_id": "NP_001352446.1",
"transcript_support_level": null,
"aa_start": 2380,
"aa_end": null,
"aa_length": 2387,
"cds_start": 7138,
"cds_end": null,
"cds_length": 7164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365517.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7135G>C",
"hgvs_p": "p.Ala2379Pro",
"transcript": "NM_001365518.2",
"protein_id": "NP_001352447.1",
"transcript_support_level": null,
"aa_start": 2379,
"aa_end": null,
"aa_length": 2386,
"cds_start": 7135,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365518.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7135G>C",
"hgvs_p": "p.Ala2379Pro",
"transcript": "ENST00000359671.5",
"protein_id": "ENSP00000352696.1",
"transcript_support_level": 5,
"aa_start": 2379,
"aa_end": null,
"aa_length": 2386,
"cds_start": 7135,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359671.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7129G>C",
"hgvs_p": "p.Ala2377Pro",
"transcript": "ENST00000967218.1",
"protein_id": "ENSP00000637277.1",
"transcript_support_level": null,
"aa_start": 2377,
"aa_end": null,
"aa_length": 2384,
"cds_start": 7129,
"cds_end": null,
"cds_length": 7155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967218.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7063G>C",
"hgvs_p": "p.Ala2355Pro",
"transcript": "NM_001365519.2",
"protein_id": "NP_001352448.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2362,
"cds_start": 7063,
"cds_end": null,
"cds_length": 7089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365519.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7060G>C",
"hgvs_p": "p.Ala2354Pro",
"transcript": "NM_001365520.2",
"protein_id": "NP_001352449.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2361,
"cds_start": 7060,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365520.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7048G>C",
"hgvs_p": "p.Ala2350Pro",
"transcript": "ENST00000865085.1",
"protein_id": "ENSP00000535144.1",
"transcript_support_level": null,
"aa_start": 2350,
"aa_end": null,
"aa_length": 2357,
"cds_start": 7048,
"cds_end": null,
"cds_length": 7074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865085.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7045G>C",
"hgvs_p": "p.Ala2349Pro",
"transcript": "NM_001365521.2",
"protein_id": "NP_001352450.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2356,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365521.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7042G>C",
"hgvs_p": "p.Ala2348Pro",
"transcript": "NM_002026.4",
"protein_id": "NP_002017.2",
"transcript_support_level": null,
"aa_start": 2348,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7042,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002026.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7042G>C",
"hgvs_p": "p.Ala2348Pro",
"transcript": "ENST00000865089.1",
"protein_id": "ENSP00000535148.1",
"transcript_support_level": null,
"aa_start": 2348,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7042,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
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"feature": "XR_007075419.1"
}
],
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"dbsnp": "rs778366340",
"frequency_reference_population": 0.0000111675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116453,
"gnomad_genomes_af": 0.00000657869,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4380963444709778,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.618,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_212482.4",
"gene_symbol": "FN1",
"hgnc_id": 3778,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7408G>C",
"hgvs_p": "p.Ala2470Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007075418.1",
"gene_symbol": "ATIC",
"hgnc_id": 794,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1872-1065C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Chronic kidney disease,Glomerulopathy with fibronectin deposits 2,Spondylometaphyseal dysplasia - Sutcliffe type,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Chronic kidney disease|not provided|Spondylometaphyseal dysplasia - Sutcliffe type;Glomerulopathy with fibronectin deposits 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}