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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: 16-399659-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=399659&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 399659,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000219479.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Ser120Ser",
"transcript": "NM_005009.3",
"protein_id": "NP_005000.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 187,
"cds_start": 360,
"cds_end": null,
"cds_length": 564,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": "ENST00000219479.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Ser120Ser",
"transcript": "ENST00000219479.7",
"protein_id": "ENSP00000219479.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 187,
"cds_start": 360,
"cds_end": null,
"cds_length": 564,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": "NM_005009.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.384G>C",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000382940.8",
"protein_id": "ENSP00000372398.4",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 195,
"cds_start": 384,
"cds_end": null,
"cds_length": 588,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Ser120Ser",
"transcript": "NM_001286435.2",
"protein_id": "NP_001273364.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 360,
"cds_end": null,
"cds_length": 522,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Ser115Ser",
"transcript": "ENST00000433358.5",
"protein_id": "ENSP00000405925.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 168,
"cds_start": 345,
"cds_end": null,
"cds_length": 507,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.258G>C",
"hgvs_p": "p.Ser86Ser",
"transcript": "NM_001286433.2",
"protein_id": "NP_001273362.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 153,
"cds_start": 258,
"cds_end": null,
"cds_length": 462,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.258G>C",
"hgvs_p": "p.Ser86Ser",
"transcript": "ENST00000621774.4",
"protein_id": "ENSP00000479681.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 153,
"cds_start": 258,
"cds_end": null,
"cds_length": 462,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_001286436.2",
"protein_id": "NP_001273365.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_001286438.2",
"protein_id": "NP_001273367.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_001286439.2",
"protein_id": "NP_001273368.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_001286440.2",
"protein_id": "NP_001273369.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000397722.5",
"protein_id": "ENSP00000380834.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000450036.1",
"protein_id": "ENSP00000389048.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.150G>C",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000620944.4",
"protein_id": "ENSP00000479996.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 117,
"cds_start": 150,
"cds_end": null,
"cds_length": 354,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1193,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "n.360G>C",
"hgvs_p": null,
"transcript": "ENST00000444498.5",
"protein_id": "ENSP00000395605.1",
"transcript_support_level": 3,
"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": 1111,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "n.*412G>C",
"hgvs_p": null,
"transcript": "ENST00000448828.5",
"protein_id": "ENSP00000412039.1",
"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": 1167,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "n.1157G>C",
"hgvs_p": null,
"transcript": "ENST00000460297.1",
"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": 1652,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "n.1250G>C",
"hgvs_p": null,
"transcript": "ENST00000468031.1",
"protein_id": null,
"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": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "n.*412G>C",
"hgvs_p": null,
"transcript": "ENST00000448828.5",
"protein_id": "ENSP00000412039.1",
"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": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"hgvs_c": "c.*185G>C",
"hgvs_p": null,
"transcript": "ENST00000454619.5",
"protein_id": "ENSP00000406317.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NME4",
"gene_hgnc_id": 7852,
"dbsnp": "rs14293",
"frequency_reference_population": 0.000002738008,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273801,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004000000189989805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.004,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000219479.7",
"gene_symbol": "NME4",
"hgnc_id": 7852,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Ser120Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}