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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: 7-35903083-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=35903083&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 35903083,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001788.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381Gln",
"transcript": "NM_001788.6",
"protein_id": "NP_001779.3",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 437,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "ENST00000350320.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381Gln",
"transcript": "ENST00000350320.11",
"protein_id": "ENSP00000344868.8",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 437,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "NM_001788.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*1059G>A",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"transcript_support_level": 2,
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*1059G>A",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"transcript_support_level": 2,
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380Gln",
"transcript": "NM_001011553.4",
"protein_id": "NP_001011553.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 436,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380Gln",
"transcript": "ENST00000705486.1",
"protein_id": "ENSP00000516132.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 436,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"transcript": "ENST00000399035.7",
"protein_id": "ENSP00000381993.4",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 417,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001242956.1",
"protein_id": "NP_001229885.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 401,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000435235.6",
"protein_id": "ENSP00000413507.2",
"transcript_support_level": 2,
"aa_start": 345,
"aa_end": null,
"aa_length": 401,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "NM_001363715.2",
"protein_id": "NP_001350644.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 384,
"cds_start": 983,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "NM_001375299.1",
"protein_id": "NP_001362228.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 384,
"cds_start": 983,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000399034.7",
"protein_id": "ENSP00000381992.4",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 384,
"cds_start": 983,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76Gln",
"transcript": "ENST00000485569.1",
"protein_id": "ENSP00000489596.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 110,
"cds_start": 227,
"cds_end": null,
"cds_length": 333,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "XM_006715806.4",
"protein_id": "XP_006715869.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 448,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380Gln",
"transcript": "XM_047421095.1",
"protein_id": "XP_047277051.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 436,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Arg351Gln",
"transcript": "XM_047421096.1",
"protein_id": "XP_047277052.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 407,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339Gln",
"transcript": "XM_047421097.1",
"protein_id": "XP_047277053.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 395,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.5768G>A",
"hgvs_p": null,
"transcript": "ENST00000425198.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 6952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1167+4700G>A",
"hgvs_p": null,
"transcript": "XM_011515656.3",
"protein_id": "XP_011513958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.1167+4700G>A",
"hgvs_p": null,
"transcript": "XM_011515661.3",
"protein_id": "XP_011513963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"dbsnp": "rs1326379004",
"frequency_reference_population": 0.000013161532,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000287328,
"gnomad_genomes_af": 0.0000131615,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4492712914943695,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.6258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.926,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001788.6",
"gene_symbol": "SEPTIN7",
"hgnc_id": 1717,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}