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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: 10-20812886-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20812886&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 20812886,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000377122.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Val801Leu",
"transcript": "NM_006393.3",
"protein_id": "NP_006384.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2401,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "ENST00000377122.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Val801Leu",
"transcript": "ENST00000377122.9",
"protein_id": "ENSP00000366326.4",
"transcript_support_level": 1,
"aa_start": 801,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2401,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "NM_006393.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"transcript": "ENST00000417816.2",
"protein_id": "ENSP00000393896.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 270,
"cds_start": 412,
"cds_end": null,
"cds_length": 813,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.1721G>C",
"hgvs_p": null,
"transcript": "ENST00000493005.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"transcript": "NM_001377322.1",
"protein_id": "NP_001364251.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 301,
"cds_start": 412,
"cds_end": null,
"cds_length": 906,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 6938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"transcript": "NM_213569.2",
"protein_id": "NP_998734.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 270,
"cds_start": 412,
"cds_end": null,
"cds_length": 813,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Val122Leu",
"transcript": "NM_001377323.1",
"protein_id": "NP_001364252.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 254,
"cds_start": 364,
"cds_end": null,
"cds_length": 765,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Val119Leu",
"transcript": "NM_001377324.1",
"protein_id": "NP_001364253.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 251,
"cds_start": 355,
"cds_end": null,
"cds_length": 756,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 6946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Val116Leu",
"transcript": "NM_001377325.1",
"protein_id": "NP_001364254.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 248,
"cds_start": 346,
"cds_end": null,
"cds_length": 747,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001377326.1",
"protein_id": "NP_001364255.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 234,
"cds_start": 304,
"cds_end": null,
"cds_length": 705,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001377327.1",
"protein_id": "NP_001364256.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 234,
"cds_start": 304,
"cds_end": null,
"cds_length": 705,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 6905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001377328.1",
"protein_id": "NP_001364257.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 234,
"cds_start": 304,
"cds_end": null,
"cds_length": 705,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"transcript": "NM_001173484.2",
"protein_id": "NP_001166955.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 224,
"cds_start": 412,
"cds_end": null,
"cds_length": 675,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 6843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.397G>C",
"hgvs_p": "p.Val133Leu",
"transcript": "ENST00000676125.1",
"protein_id": "ENSP00000501594.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 212,
"cds_start": 397,
"cds_end": null,
"cds_length": 639,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2353G>C",
"hgvs_p": "p.Val785Leu",
"transcript": "XM_011519291.3",
"protein_id": "XP_011517593.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 998,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2353G>C",
"hgvs_p": "p.Val785Leu",
"transcript": "XM_047424443.1",
"protein_id": "XP_047280399.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 998,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "XM_005252342.6",
"protein_id": "XP_005252399.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 980,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Val801Leu",
"transcript": "XM_005252343.6",
"protein_id": "XP_005252400.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 933,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 8682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"transcript": "XM_047424444.1",
"protein_id": "XP_047280400.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 351,
"cds_start": 412,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.620G>C",
"hgvs_p": null,
"transcript": "ENST00000675114.1",
"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": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000675700.1",
"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": 6533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.691G>C",
"hgvs_p": null,
"transcript": "ENST00000675702.1",
"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": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"dbsnp": "rs772136984",
"frequency_reference_population": 0.00000991407,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.000010262,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20178967714309692,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.2823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.801,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377122.9",
"gene_symbol": "NEBL",
"hgnc_id": 16932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Val801Leu"
}
],
"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
}