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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: 2-127428895-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127428895&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127428895,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000234071.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"transcript": "NM_000312.4",
"protein_id": "NP_000303.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 461,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "ENST00000234071.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"transcript": "ENST00000234071.8",
"protein_id": "ENSP00000234071.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 461,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "NM_000312.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1521C>G",
"hgvs_p": "p.Ile507Met",
"transcript": "NM_001375607.1",
"protein_id": "NP_001362536.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 523,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Ile506Met",
"transcript": "NM_001375602.1",
"protein_id": "NP_001362531.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 522,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1503C>G",
"hgvs_p": "p.Ile501Met",
"transcript": "NM_001375606.1",
"protein_id": "NP_001362535.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 517,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1500C>G",
"hgvs_p": "p.Ile500Met",
"transcript": "NM_001375603.1",
"protein_id": "NP_001362532.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 516,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"transcript": "NM_001375605.1",
"protein_id": "NP_001362534.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 495,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"transcript": "ENST00000409048.1",
"protein_id": "ENSP00000386679.1",
"transcript_support_level": 5,
"aa_start": 479,
"aa_end": null,
"aa_length": 495,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1398C>G",
"hgvs_p": "p.Ile466Met",
"transcript": "NM_001375604.1",
"protein_id": "NP_001362533.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 482,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"transcript": "NM_001375611.1",
"protein_id": "NP_001362540.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 461,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"transcript": "NM_001375613.1",
"protein_id": "NP_001362542.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 461,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1329C>G",
"hgvs_p": "p.Ile443Met",
"transcript": "NM_001375610.1",
"protein_id": "NP_001362539.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 459,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Ile437Met",
"transcript": "NM_001375609.1",
"protein_id": "NP_001362538.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 453,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Ile426Met",
"transcript": "NM_001375608.1",
"protein_id": "NP_001362537.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 442,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.657C>G",
"hgvs_p": "p.Ile219Met",
"transcript": "ENST00000402125.2",
"protein_id": "ENSP00000384225.2",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 235,
"cds_start": 657,
"cds_end": null,
"cds_length": 708,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1620C>G",
"hgvs_p": "p.Ile540Met",
"transcript": "XM_024453003.2",
"protein_id": "XP_024308771.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 556,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Ile508Met",
"transcript": "XM_047445117.1",
"protein_id": "XP_047301073.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 524,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1020C>G",
"hgvs_p": "p.Ile340Met",
"transcript": "XM_024453002.2",
"protein_id": "XP_024308770.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 356,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.1020C>G",
"hgvs_p": "p.Ile340Met",
"transcript": "XM_047445118.1",
"protein_id": "XP_047301074.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 356,
"cds_start": 1020,
"cds_end": null,
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"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Ile256Met",
"transcript": "XM_017004505.2",
"protein_id": "XP_016859994.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 272,
"cds_start": 768,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373608",
"gene_hgnc_id": null,
"hgvs_c": "n.1041-631G>C",
"hgvs_p": null,
"transcript": "XR_007087228.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"dbsnp": "rs121918157",
"frequency_reference_population": 0.0000074355526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752565,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9261280298233032,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.706,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.108,
"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": "Uncertain_significance",
"acmg_criteria": "PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000234071.8",
"gene_symbol": "PROC",
"hgnc_id": 9451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007087228.1",
"gene_symbol": "LOC105373608",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1041-631G>C",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive,Thrombophilia due to protein C deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Thrombophilia due to protein C deficiency, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}