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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: 10-20812812-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20812812&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 20812812,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006393.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2475C>T",
"hgvs_p": "p.His825His",
"transcript": "NM_006393.3",
"protein_id": "NP_006384.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2475,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "ENST00000377122.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2475C>T",
"hgvs_p": "p.His825His",
"transcript": "ENST00000377122.9",
"protein_id": "ENSP00000366326.4",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2475,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "NM_006393.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.486C>T",
"hgvs_p": "p.His162His",
"transcript": "ENST00000417816.2",
"protein_id": "ENSP00000393896.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 270,
"cds_start": 486,
"cds_end": null,
"cds_length": 813,
"cdna_start": 840,
"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.1795C>T",
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.486C>T",
"hgvs_p": "p.His162His",
"transcript": "NM_001377322.1",
"protein_id": "NP_001364251.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 301,
"cds_start": 486,
"cds_end": null,
"cds_length": 906,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 6938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.486C>T",
"hgvs_p": "p.His162His",
"transcript": "NM_213569.2",
"protein_id": "NP_998734.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 270,
"cds_start": 486,
"cds_end": null,
"cds_length": 813,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.438C>T",
"hgvs_p": "p.His146His",
"transcript": "NM_001377323.1",
"protein_id": "NP_001364252.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 254,
"cds_start": 438,
"cds_end": null,
"cds_length": 765,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.429C>T",
"hgvs_p": "p.His143His",
"transcript": "NM_001377324.1",
"protein_id": "NP_001364253.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 251,
"cds_start": 429,
"cds_end": null,
"cds_length": 756,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 6946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.420C>T",
"hgvs_p": "p.His140His",
"transcript": "NM_001377325.1",
"protein_id": "NP_001364254.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 248,
"cds_start": 420,
"cds_end": null,
"cds_length": 747,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.378C>T",
"hgvs_p": "p.His126His",
"transcript": "NM_001377326.1",
"protein_id": "NP_001364255.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 234,
"cds_start": 378,
"cds_end": null,
"cds_length": 705,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.378C>T",
"hgvs_p": "p.His126His",
"transcript": "NM_001377327.1",
"protein_id": "NP_001364256.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 234,
"cds_start": 378,
"cds_end": null,
"cds_length": 705,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 6905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.378C>T",
"hgvs_p": "p.His126His",
"transcript": "NM_001377328.1",
"protein_id": "NP_001364257.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 234,
"cds_start": 378,
"cds_end": null,
"cds_length": 705,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.486C>T",
"hgvs_p": "p.His162His",
"transcript": "NM_001173484.2",
"protein_id": "NP_001166955.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 224,
"cds_start": 486,
"cds_end": null,
"cds_length": 675,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 6843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.471C>T",
"hgvs_p": "p.His157His",
"transcript": "ENST00000676125.1",
"protein_id": "ENSP00000501594.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 212,
"cds_start": 471,
"cds_end": null,
"cds_length": 639,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2427C>T",
"hgvs_p": "p.His809His",
"transcript": "XM_011519291.3",
"protein_id": "XP_011517593.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 998,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2864,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2427C>T",
"hgvs_p": "p.His809His",
"transcript": "XM_047424443.1",
"protein_id": "XP_047280399.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 998,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2373C>T",
"hgvs_p": "p.His791His",
"transcript": "XM_005252342.6",
"protein_id": "XP_005252399.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 980,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2475C>T",
"hgvs_p": "p.His825His",
"transcript": "XM_005252343.6",
"protein_id": "XP_005252400.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 933,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 8682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.486C>T",
"hgvs_p": "p.His162His",
"transcript": "XM_047424444.1",
"protein_id": "XP_047280400.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 351,
"cds_start": 486,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 840,
"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.694C>T",
"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.509C>T",
"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.765C>T",
"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": "rs727503334",
"frequency_reference_population": 0.0000061570877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615709,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"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": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.532,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006393.3",
"gene_symbol": "NEBL",
"hgnc_id": 16932,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2475C>T",
"hgvs_p": "p.His825His"
}
],
"clinvar_disease": "Primary dilated cardiomyopathy,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Primary dilated cardiomyopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}