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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: 15-55860531-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55860531&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55860531,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000435532.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Asn279Ile",
"transcript": "NM_006154.4",
"protein_id": "NP_006145.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 900,
"cds_start": 836,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "ENST00000435532.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Asn279Ile",
"transcript": "ENST00000435532.8",
"protein_id": "ENSP00000410613.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 900,
"cds_start": 836,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "NM_006154.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.Asn698Ile",
"transcript": "ENST00000508342.5",
"protein_id": "ENSP00000424827.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2093,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 7235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2045A>T",
"hgvs_p": "p.Asn682Ile",
"transcript": "ENST00000506154.1",
"protein_id": "ENSP00000422705.1",
"transcript_support_level": 1,
"aa_start": 682,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2045,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1877A>T",
"hgvs_p": "p.Asn626Ile",
"transcript": "ENST00000338963.6",
"protein_id": "ENSP00000345530.2",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 1247,
"cds_start": 1877,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Asn288Ile",
"transcript": "ENST00000508871.5",
"protein_id": "ENSP00000422455.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 909,
"cds_start": 863,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 5707,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*414A>T",
"hgvs_p": null,
"transcript": "ENST00000503468.5",
"protein_id": "ENSP00000426051.1",
"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": 6339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*414A>T",
"hgvs_p": null,
"transcript": "ENST00000503468.5",
"protein_id": "ENSP00000426051.1",
"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": 6339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.Asn698Ile",
"transcript": "NM_001284338.2",
"protein_id": "NP_001271267.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2093,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 7240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2045A>T",
"hgvs_p": "p.Asn682Ile",
"transcript": "NM_001284339.1",
"protein_id": "NP_001271268.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2045,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2042A>T",
"hgvs_p": "p.Asn681Ile",
"transcript": "NM_001284340.1",
"protein_id": "NP_001271269.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1302,
"cds_start": 2042,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1877A>T",
"hgvs_p": "p.Asn626Ile",
"transcript": "NM_198400.3",
"protein_id": "NP_940682.2",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1247,
"cds_start": 1877,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.395A>T",
"hgvs_p": "p.Asn132Ile",
"transcript": "NM_001329212.2",
"protein_id": "NP_001316141.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 753,
"cds_start": 395,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.761A>T",
"hgvs_p": "p.Asn254Ile",
"transcript": "XM_011521624.4",
"protein_id": "XP_011519926.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 875,
"cds_start": 761,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 5666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.683A>T",
"hgvs_p": "p.Asn228Ile",
"transcript": "XM_011521625.4",
"protein_id": "XP_011519927.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 849,
"cds_start": 683,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.683A>T",
"hgvs_p": "p.Asn228Ile",
"transcript": "XM_011521626.2",
"protein_id": "XP_011519928.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 849,
"cds_start": 683,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 5594,
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*615A>T",
"hgvs_p": null,
"transcript": "ENST00000648451.1",
"protein_id": "ENSP00000498181.1",
"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": 5733,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.2285A>T",
"hgvs_p": null,
"transcript": "NR_104302.2",
"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": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*615A>T",
"hgvs_p": null,
"transcript": "ENST00000648451.1",
"protein_id": "ENSP00000498181.1",
"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": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*717A>T",
"hgvs_p": null,
"transcript": "ENST00000502612.5",
"protein_id": "ENSP00000424471.1",
"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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"dbsnp": "rs2303579",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10267341136932373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.167,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000435532.8",
"gene_symbol": "NEDD4",
"hgnc_id": 7727,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Asn279Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}