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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: 2-127428602-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127428602&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127428602,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000234071.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "NM_000312.4",
"protein_id": "NP_000303.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 461,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "ENST00000234071.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "ENST00000234071.8",
"protein_id": "ENSP00000234071.4",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 461,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "NM_000312.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1228C>A",
"hgvs_p": "p.Arg410Arg",
"transcript": "NM_001375607.1",
"protein_id": "NP_001362536.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 523,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1225C>A",
"hgvs_p": "p.Arg409Arg",
"transcript": "NM_001375602.1",
"protein_id": "NP_001362531.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 522,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1210C>A",
"hgvs_p": "p.Arg404Arg",
"transcript": "NM_001375606.1",
"protein_id": "NP_001362535.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 517,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1207C>A",
"hgvs_p": "p.Arg403Arg",
"transcript": "NM_001375603.1",
"protein_id": "NP_001362532.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 516,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1144C>A",
"hgvs_p": "p.Arg382Arg",
"transcript": "NM_001375605.1",
"protein_id": "NP_001362534.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 495,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1144C>A",
"hgvs_p": "p.Arg382Arg",
"transcript": "ENST00000409048.1",
"protein_id": "ENSP00000386679.1",
"transcript_support_level": 5,
"aa_start": 382,
"aa_end": null,
"aa_length": 495,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1105C>A",
"hgvs_p": "p.Arg369Arg",
"transcript": "NM_001375604.1",
"protein_id": "NP_001362533.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 482,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "NM_001375611.1",
"protein_id": "NP_001362540.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 461,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "NM_001375613.1",
"protein_id": "NP_001362542.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 461,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1036C>A",
"hgvs_p": "p.Arg346Arg",
"transcript": "NM_001375610.1",
"protein_id": "NP_001362539.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 459,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1018C>A",
"hgvs_p": "p.Arg340Arg",
"transcript": "NM_001375609.1",
"protein_id": "NP_001362538.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 453,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "NM_001375608.1",
"protein_id": "NP_001362537.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 442,
"cds_start": 985,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.364C>A",
"hgvs_p": "p.Arg122Arg",
"transcript": "ENST00000402125.2",
"protein_id": "ENSP00000384225.2",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 235,
"cds_start": 364,
"cds_end": null,
"cds_length": 708,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1327C>A",
"hgvs_p": "p.Arg443Arg",
"transcript": "XM_024453003.2",
"protein_id": "XP_024308771.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 556,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1231C>A",
"hgvs_p": "p.Arg411Arg",
"transcript": "XM_047445117.1",
"protein_id": "XP_047301073.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 524,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.727C>A",
"hgvs_p": "p.Arg243Arg",
"transcript": "XM_024453002.2",
"protein_id": "XP_024308770.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 356,
"cds_start": 727,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.727C>A",
"hgvs_p": "p.Arg243Arg",
"transcript": "XM_047445118.1",
"protein_id": "XP_047301074.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 356,
"cds_start": 727,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.475C>A",
"hgvs_p": "p.Arg159Arg",
"transcript": "XM_017004505.2",
"protein_id": "XP_016859994.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 272,
"cds_start": 475,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1094,
"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.1041-338G>T",
"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": "rs121918141",
"frequency_reference_population": 0.0000065682307,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656823,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.005,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000234071.8",
"gene_symbol": "PROC",
"hgnc_id": 9451,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007087228.1",
"gene_symbol": "LOC105373608",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1041-338G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}