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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: X-154350999-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154350999&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"hgvs_c": "c.7066A>G",
"hgvs_p": "p.Ser2356Gly",
"inheritance_mode": "XL,AD,AR,Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001110556.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1807,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.42234793305397034,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "S",
"aa_start": 2356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 7311,
"cds_end": null,
"cds_length": 7944,
"cds_start": 7066,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001110556.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7066A>G",
"hgvs_p": "p.Ser2356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369850.10",
"protein_coding": true,
"protein_id": "NP_001104026.1",
"strand": false,
"transcript": "NM_001110556.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "S",
"aa_start": 2356,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 7311,
"cds_end": null,
"cds_length": 7944,
"cds_start": 7066,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000369850.10",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7066A>G",
"hgvs_p": "p.Ser2356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110556.2",
"protein_coding": true,
"protein_id": "ENSP00000358866.3",
"strand": false,
"transcript": "ENST00000369850.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "S",
"aa_start": 2348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8278,
"cdna_start": 7080,
"cds_end": null,
"cds_length": 7920,
"cds_start": 7042,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000360319.9",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7042A>G",
"hgvs_p": "p.Ser2348Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353467.4",
"strand": false,
"transcript": "ENST00000360319.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "S",
"aa_start": 2329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8240,
"cdna_start": 7043,
"cds_end": null,
"cds_length": 7863,
"cds_start": 6985,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000369856.8",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6985A>G",
"hgvs_p": "p.Ser2329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358872.4",
"strand": false,
"transcript": "ENST00000369856.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000490936.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.3594A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490936.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2650,
"aa_ref": "S",
"aa_start": 2359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8520,
"cdna_start": 7324,
"cds_end": null,
"cds_length": 7953,
"cds_start": 7075,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000888339.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7075A>G",
"hgvs_p": "p.Ser2359Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558398.1",
"strand": false,
"transcript": "ENST00000888339.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "S",
"aa_start": 2351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 7294,
"cds_end": null,
"cds_length": 7929,
"cds_start": 7051,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000888343.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7051A>G",
"hgvs_p": "p.Ser2351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558402.1",
"strand": false,
"transcript": "ENST00000888343.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "S",
"aa_start": 2348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 7287,
"cds_end": null,
"cds_length": 7920,
"cds_start": 7042,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001456.4",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7042A>G",
"hgvs_p": "p.Ser2348Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001447.2",
"strand": false,
"transcript": "NM_001456.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "S",
"aa_start": 2347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 7284,
"cds_end": null,
"cds_length": 7917,
"cds_start": 7039,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000888340.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7039A>G",
"hgvs_p": "p.Ser2347Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558399.1",
"strand": false,
"transcript": "ENST00000888340.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "S",
"aa_start": 2347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 7284,
"cds_end": null,
"cds_length": 7917,
"cds_start": 7039,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000964813.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7039A>G",
"hgvs_p": "p.Ser2347Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634872.1",
"strand": false,
"transcript": "ENST00000964813.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "S",
"aa_start": 2340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8461,
"cdna_start": 7263,
"cds_end": null,
"cds_length": 7896,
"cds_start": 7018,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000888341.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.7018A>G",
"hgvs_p": "p.Ser2340Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558400.1",
"strand": false,
"transcript": "ENST00000888341.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2607,
"aa_ref": "S",
"aa_start": 2316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 7195,
"cds_end": null,
"cds_length": 7824,
"cds_start": 6946,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000888338.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6946A>G",
"hgvs_p": "p.Ser2316Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558397.1",
"strand": false,
"transcript": "ENST00000888338.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2572,
"aa_ref": "S",
"aa_start": 2281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": 6952,
"cds_end": null,
"cds_length": 7719,
"cds_start": 6841,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000934717.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6841A>G",
"hgvs_p": "p.Ser2281Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604776.1",
"strand": false,
"transcript": "ENST00000934717.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2450,
"aa_ref": "S",
"aa_start": 2159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7914,
"cdna_start": 6718,
"cds_end": null,
"cds_length": 7353,
"cds_start": 6475,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000888342.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6475A>G",
"hgvs_p": "p.Ser2159Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558401.1",
"strand": false,
"transcript": "ENST00000888342.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2317,
"aa_ref": "S",
"aa_start": 2026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": 6317,
"cds_end": null,
"cds_length": 6954,
"cds_start": 6076,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000888344.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.6076A>G",
"hgvs_p": "p.Ser2026Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558403.1",
"strand": false,
"transcript": "ENST00000888344.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1574,
"aa_ref": "S",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5083,
"cdna_start": 3885,
"cds_end": null,
"cds_length": 4725,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000422373.6",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.3847A>G",
"hgvs_p": "p.Ser1283Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416926.2",
"strand": false,
"transcript": "ENST00000422373.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 989,
"aa_ref": "S",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964814.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.2092A>G",
"hgvs_p": "p.Ser698Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634873.1",
"strand": false,
"transcript": "ENST00000964814.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 435,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673639.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.278-2309A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501210.2",
"strand": false,
"transcript": "ENST00000673639.2",
"transcript_support_level": null
},
{
"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": 8225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000420627.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5207A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408921.1",
"strand": false,
"transcript": "ENST00000420627.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000498491.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.107A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000498491.5",
"transcript_support_level": 5
},
{
"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": 8319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000610817.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*5674A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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