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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: 13-113118590-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113118590&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "F7",
"hgnc_id": 3544,
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000131.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8273,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "13",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Factor VII deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7216008901596069,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "F",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1335,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_019616.4",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Phe306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346342.8",
"protein_coding": true,
"protein_id": "NP_062562.1",
"strand": true,
"transcript": "NM_019616.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "F",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1335,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000346342.8",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Phe306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019616.4",
"protein_coding": true,
"protein_id": "ENSP00000329546.4",
"strand": true,
"transcript": "ENST00000346342.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "F",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1401,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000375581.3",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364731.3",
"strand": true,
"transcript": "ENST00000375581.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "F",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891255.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Phe377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561314.1",
"strand": true,
"transcript": "ENST00000891255.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 502,
"aa_ref": "F",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891251.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Phe364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561310.1",
"strand": true,
"transcript": "ENST00000891251.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 501,
"aa_ref": "F",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891248.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Phe363Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561307.1",
"strand": true,
"transcript": "ENST00000891248.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 482,
"aa_ref": "F",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891256.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1031T>C",
"hgvs_p": "p.Phe344Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561315.1",
"strand": true,
"transcript": "ENST00000891256.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 481,
"aa_ref": "F",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891247.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1028T>C",
"hgvs_p": "p.Phe343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561306.1",
"strand": true,
"transcript": "ENST00000891247.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "F",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891240.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Phe342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561299.1",
"strand": true,
"transcript": "ENST00000891240.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "F",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891257.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Phe342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561316.1",
"strand": true,
"transcript": "ENST00000891257.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "F",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891241.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Phe341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561300.1",
"strand": true,
"transcript": "ENST00000891241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 474,
"aa_ref": "F",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891252.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Phe336Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561311.1",
"strand": true,
"transcript": "ENST00000891252.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "F",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1404,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891254.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Phe329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561313.1",
"strand": true,
"transcript": "ENST00000891254.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "F",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1401,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000131.5",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000122.1",
"strand": true,
"transcript": "NM_000131.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "F",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1332,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891243.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Phe305Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561302.1",
"strand": true,
"transcript": "ENST00000891243.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "F",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1332,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891250.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Phe305Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561309.1",
"strand": true,
"transcript": "ENST00000891250.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 441,
"aa_ref": "F",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1326,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891246.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Phe303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561305.1",
"strand": true,
"transcript": "ENST00000891246.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1299,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891245.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.881T>C",
"hgvs_p": "p.Phe294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561304.1",
"strand": true,
"transcript": "ENST00000891245.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 431,
"aa_ref": "F",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1296,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891239.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.878T>C",
"hgvs_p": "p.Phe293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561298.1",
"strand": true,
"transcript": "ENST00000891239.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 428,
"aa_ref": "F",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1287,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891258.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Phe290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561317.1",
"strand": true,
"transcript": "ENST00000891258.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "F",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1257,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891253.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.839T>C",
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