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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: 15-43874206-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43874206&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FRMD5",
"hgnc_id": 28214,
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032892.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"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": "V",
"aa_end": null,
"aa_length": 570,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5051,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032892.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417257.6",
"protein_coding": true,
"protein_id": "NP_116281.2",
"strand": false,
"transcript": "NM_032892.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 570,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5051,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417257.6",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032892.5",
"protein_coding": true,
"protein_id": "ENSP00000403067.1",
"strand": false,
"transcript": "ENST00000417257.6",
"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": 2778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000421674.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "n.*1335_*1336delCCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401635.1",
"strand": false,
"transcript": "ENST00000421674.5",
"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": 2628,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000458630.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "n.*1338_*1339delCCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404496.1",
"strand": false,
"transcript": "ENST00000458630.5",
"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": 2778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000421674.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "n.*1335_*1336delCCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401635.1",
"strand": false,
"transcript": "ENST00000421674.5",
"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": 2628,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000458630.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "n.*1338_*1339delCCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404496.1",
"strand": false,
"transcript": "ENST00000458630.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 517,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411124.1",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398053.1",
"strand": false,
"transcript": "NM_001411124.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 517,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402883.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384142.1",
"strand": false,
"transcript": "ENST00000402883.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 514,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322949.2",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309878.1",
"strand": false,
"transcript": "NM_001322949.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322950.2",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1391_1392delCCinsTG",
"hgvs_p": "p.Ala464Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309879.1",
"strand": false,
"transcript": "NM_001322950.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322951.2",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1286_1287delCCinsTG",
"hgvs_p": "p.Ala429Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309880.1",
"strand": false,
"transcript": "NM_001322951.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449926.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1289_1290delCCinsTG",
"hgvs_p": "p.Ala430Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399684.1",
"strand": false,
"transcript": "ENST00000449926.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4830,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286490.2",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1109_1110delCCinsTG",
"hgvs_p": "p.Ala370Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273419.1",
"strand": false,
"transcript": "NM_001286490.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484674.5",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1109_1110delCCinsTG",
"hgvs_p": "p.Ala370Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452968.1",
"strand": false,
"transcript": "ENST00000484674.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 336,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 1011,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286491.2",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.689_690delCCinsTG",
"hgvs_p": "p.Ala230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273420.1",
"strand": false,
"transcript": "NM_001286491.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 336,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1011,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618556.4",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.689_690delCCinsTG",
"hgvs_p": "p.Ala230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479575.1",
"strand": false,
"transcript": "ENST00000618556.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 605,
"cds_end": null,
"cds_length": 750,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636859.1",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.428_429delCCinsTG",
"hgvs_p": "p.Ala143Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490339.1",
"strand": false,
"transcript": "ENST00000636859.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433193.1",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1124_1125delCCinsTG",
"hgvs_p": "p.Ala375Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289149.1",
"strand": false,
"transcript": "XM_047433193.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4751,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433194.1",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.1124_1125delCCinsTG",
"hgvs_p": "p.Ala375Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289150.1",
"strand": false,
"transcript": "XM_047433194.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 243,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 732,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433195.1",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.410_411delCCinsTG",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289151.1",
"strand": false,
"transcript": "XM_047433195.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 178,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 702,
"cdna_start": null,
"cds_end": null,
"cds_length": 537,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558108.6",
"gene_hgnc_id": 28214,
"gene_symbol": "FRMD5",
"hgvs_c": "c.508-480_508-479delCCinsTG",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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